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Andrew Singleton

Title(s)Clinical Assistant Professor of Surgery (Part-Time)
AddressGNH 2051 Marengo Street
Health Sciences Campus
Los Angeles CA 90033
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    1. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet. 2021 Feb 15. PMID: 33589841.
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    2. The Parkinson's Disease DNA Variant Browser. Mov Disord. 2021 Jan 26. Kim JJ, Makarious MB, Bandres-Ciga S, Gibbs JR, Ding J, Hernandez DG, Brooks J, Grenn FP, Iwaki H, Singleton AB, Nalls MA, Blauwendraat C. PMID: 33497488.
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    3. Assessing the Relationship Between Monoallelic PRKN Mutations and Parkinson's Risk. Hum Mol Genet. 2021 Jan 15. Lubbe SJ, Bustos B, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR. PMID: 33448283.
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    4. A population scale analysis of rare SNCA variation in the UK Biobank. Neurobiol Dis. 2021 Jan; 148:105182. PMID: 33307186.
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    5. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. 2020 Nov 25. Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. PMID: 33242422.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    6. Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Mov Disord. 2020 Oct 28. Tan MMX, Lawton MA, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Pollard MI, Hubbard L, Malek N, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Wood NW, Williams-Gray CH, Hardy J, Nalls MA, Singleton AB, Williams NM, Ben-Shlomo Y, Hu MTM, Grosset DG, Shoai M, Morris HR. PMID: 33111402.
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    7. LRRK2 mediates microglial neurotoxicity via NFATc2 in rodent models of synucleinopathies. Sci Transl Med. 2020 Oct 14; 12(565). Kim C, Beilina A, Smith N, Li Y, Kim M, Kumaran R, Kaganovich A, Mamais A, Adame A, Iba M, Kwon S, Lee WJ, Shin SJ, Rissman RA, You S, Lee SJ, Singleton AB, Cookson MR, Masliah E. PMID: 33055242.
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    8. Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank. J Neurol Neurosurg Psychiatry. 2020 Oct; 91(10):1046-1054. Jacobs BM, Belete D, Bestwick J, Blauwendraat C, Bandres-Ciga S, Heilbron K, Dobson R, Nalls MA, Singleton A, Hardy J, Giovannoni G, Lees AJ, Schrag AE, Noyce AJ. PMID: 32934108.
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    9. Differences in the Presentation and Progression of Parkinson's Disease by Sex. Mov Disord. 2021 01; 36(1):106-117. PMID: 33002231.
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    10. The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord. 2020 11; 35(11):2056-2067. Grenn FP, Kim JJ, Makarious MB, Iwaki H, Illarionova A, Brolin K, Kluss JH, Schumacher-Schuh AF, Leonard H, Faghri F, Billingsley K, Krohn L, Hall A, Diez-Fairen M, Periñán MT, Foo JN, Sandor C, Webber C, Fiske BK, Gibbs JR, Nalls MA, Singleton AB, Bandres-Ciga S, Reed X, Blauwendraat C. PMID: 32864809.
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    11. Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression. Mov Disord. 2020 11; 35(11):1999-2008. Mollenhauer B, Dakna M, Kruse N, Galasko D, Foroud T, Zetterberg H, Schade S, Gera RG, Wang W, Gao F, Frasier M, Chahine LM, Coffey CS, Singleton AB, Simuni T, Weintraub D, Seibyl J, Toga AW, Tanner CM, Kieburtz K, Marek K, Siderowf A, Cedarbaum JM, Hutten SJ, Trenkwalder C, Graham D. PMID: 32798333.
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    12. Assessment of Genetic Association Between Parkinson Disease and Bipolar Disorder. JAMA Neurol. 2020 Aug 01; 77(8):1034-1035. Bandres-Ciga S, Blauwendraat C, Singleton AB. PMID: 32391853.
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    13. Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort. Front Neurol. 2020; 11:682. Lesage S, Houot M, Mangone G, Tesson C, Bertrand H, Forlani S, Anheim M, Brefel-Courbon C, Broussolle E, Thobois S, Damier P, Durif F, Roze E, Tison F, Grabli D, Ory-Magne F, Degos B, Viallet F, Cormier-Dequaire F, Ouvrard-Hernandez AM, Vidailhet M, Lohmann E, Singleton A, Corvol JC, Brice A. PMID: 32849182.
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    14. Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Ann Neurol. 2020 10; 88(4):843-850. Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A. PMID: 33045815.
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    15. Shared mechanisms for cognitive impairment and physical frailty: A model for complex systems. Alzheimers Dement (N Y). 2020; 6(1):e12027. Sargent L, Nalls M, Amella EJ, Slattum PW, Mueller M, Bandinelli S, Tian Q, Swift-Scanlan T, Lageman SK, Singleton A. PMID: 32685657.
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    16. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease. Neurobiol Aging. 2021 Jan; 97:148.e17-148.e24. Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, Ben Romdhan S, Benmahdjoub M, Arezki M, Mhiri C, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset DG, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N, Morris HR. PMID: 32873436.
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    17. Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease. Acta Neuropathol. 2020 09; 140(3):341-358. Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A, Pihlstrom L, Torkamani A, Soltis AR, Dalgard CL, Scholz SW, Traynor BJ, Ehrlich D, Scherzer CR, Bookman M, Cookson M, Blauwendraat C, Nalls MA, Singleton AB. PMID: 32601912.
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    18. Characterization of recessive Parkinson's disease in a large multicenter study. Ann Neurol. 2020 May 30. Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A. PMID: 32472966.
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    19. Anticholinergic Drug Induced Cognitive and Physical Impairment: Results from the InCHIANTI Study. J Gerontol A Biol Sci Med Sci. 2020 Apr 17; 75(5):995-1002. Sargent L, Nalls M, Amella EJ, Mueller M, Lageman SK, Bandinelli S, Colpo M, Slattum PW, Singleton A, Ferrucci L. PMID: 30590397.
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    20. Comprehensive assessment of PINK1 variants in Parkinson's disease. Neurobiol Aging. 2020 07; 91:168.e1-168.e5. Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB, Blauwendraat C. PMID: 32249012.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    21. Disease modification and biomarker development in Parkinson disease: Revision or reconstruction? Neurology. 2020 03 17; 94(11):481-494. Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray CH, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Sherer T, Postuma RB, Strafella AP, Singleton AB, Barker RA, Kieburtz K, Olanow CW, Lozano A, Kordower JH, Cedarbaum JM, Brundin P, Standaert DG, Lang AE. PMID: 32102975.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    22. Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study. Mov Disord. 2020 05; 35(5):833-844. Simuni T, Brumm MC, Uribe L, Caspell-Garcia C, Coffey CS, Siderowf A, Alcalay RN, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Nudelman K, Tosun-Turgut D, Poston K, Weintraub D, Mollenhauer B, Tanner CM, Kieburtz K, Chahine LM, Reimer A, Hutten S, Bressman S, Marek K. PMID: 32073681.
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    23. The Discovery of LRRK2 Mutations as a Cause of Parkinson's Disease. Mov Disord. 2020 04; 35(4):551-554. Singleton AB, Gasser T. PMID: 32065426.
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    24. Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies. Ann Neurol. 2020 04; 87(4):584-598. Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB, Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA, Gan-Or Z. PMID: 31976583.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    25. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathol Commun. 2020 01 29; 8(1):5. Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Trojanowski JQ, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday G, Stone DJ, Dickson DW, Hardy J, Singleton A, Guerreiro R, Bras J. PMID: 31996268.
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    26. Genetics of Parkinson's disease: An introspection of its journey towards precision medicine. Neurobiol Dis. 2020 04; 137:104782. Bandres-Ciga S, Diez-Fairen M, Kim JJ, Singleton AB. PMID: 31991247.
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    27. Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score. Mov Disord. 2020 05; 35(5):774-780. Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB. PMID: 31958187.
      View in: PubMed   Mentions: 4     Fields:    
    28. High-resolution inference of genetic relationships among Jewish populations. Eur J Hum Genet. 2020 06; 28(6):804-814. Kopelman NM, Stone L, Hernandez DG, Gefel D, Singleton AB, Heyer E, Feldman MW, Hillel J, Rosenberg NA. PMID: 31919450.
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    29. Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain. 2020 01 01; 143(1):234-248. Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. PMID: 31755958.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    30. Ultrasonographic inferior vena cava diameter response to trauma resuscitation after 1 hour predicts 24-hour fluid requirement. J Trauma Acute Care Surg. 2020 01; 88(1):70-79. Doucet JJ, Ferrada P, Murthi S, Nirula R, Edwards S, Cantrell E, Han J, Haase D, Singleton A, Birkas Y, Casola G, Coimbra R. PMID: 31688824.
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    31. Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis. Sci Rep. 2019 12 11; 9(1):18865. Siitonen A, Kytövuori L, Nalls MA, Gibbs R, Hernandez DG, Ylikotila P, Peltonen M, Singleton AB, Majamaa K. PMID: 31827228.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    32. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019 12; 18(12):1091-1102. Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB. PMID: 31701892.
      View in: PubMed   Mentions: 76     Fields:    Translation:Humans
    33. Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. J Med Genet. 2020 05; 57(5):331-338. Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z. PMID: 31784483.
      View in: PubMed   Mentions: 6     Fields:    
    34. Progress in the genetic analysis of Parkinson's disease. Hum Mol Genet. 2019 11 21; 28(R2):R215-R218. Singleton A, Hardy J. PMID: 31518392.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    35. Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study. Lancet Neurol. 2020 01; 19(1):71-80. Simuni T, Uribe L, Cho HR, Caspell-Garcia C, Coffey CS, Siderowf A, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Tosun D, Poston K, Weintraub D, Mollenhauer B, Tanner CM, Kieburtz K, Chahine LM, Reimer A, Hutten SJ, Bressman S, Marek K. PMID: 31678032.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    36. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Mov Disord. 2019 12; 34(12):1851-1863. Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL, Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-Escrig A, Duarte J, Vives F, Duran R, Hoenicka J, Alvarez V, Infante J, Marti MJ, Clarimón J, López de Munain A, Pastor P, Mir P, Singleton A. PMID: 31660654.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    37. The Parkinson's Disease Mendelian Randomization Research Portal. Mov Disord. 2019 12; 34(12):1864-1872. Noyce AJ, Bandres-Ciga S, Kim J, Heilbron K, Kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs JR, Hinds DA, Yang J, Visscher P, Cuzick J, Morris H, Hardy J, Wood NW, Nalls MA, Singleton AB. PMID: 31659794.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    38. Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease. Hum Mol Genet. 2019 10 01; 28(19):3244-3254. Jinn S, Blauwendraat C, Toolan D, Gretzula CA, Drolet RE, Smith S, Nalls MA, Marcus J, Singleton AB, Stone DJ. PMID: 31261387.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    39. The genetic architecture of Parkinson's disease. Lancet Neurol. 2020 02; 19(2):170-178. Blauwendraat C, Nalls MA, Singleton AB. PMID: 31521533.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    40. Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts. Mov Disord. 2019 12; 34(12):1839-1850. Iwaki H, Blauwendraat C, Leonard HL, Kim JJ, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Gibbs JR, Chitrala KN, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada K, Wegel CE, Danjou F, Simon DK, Andreassen O, Ravina B, Toft M, Heutink P, Bloem BR, Weintraub D, Barker RA, Williams-Gray CH, van de Warrenburg BP, Van Hilten JJ, Scherzer CR, Singleton AB, Nalls MA. PMID: 31505070.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    41. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing. Nat Genet. 2019 Sep; 51(9):1423-1424. Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. PMID: 31417202.
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    42. Novel age-associated DNA methylation changes and epigenetic age acceleration in middle-aged African Americans and whites. Clin Epigenetics. 2019 08 19; 11(1):119. Tajuddin SM, Hernandez DG, Chen BH, Noren Hooten N, Mode NA, Nalls MA, Singleton AB, Ejiogu N, Chitrala KN, Zonderman AB, Evans MK. PMID: 31426852.
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    43. Blood Leukocyte DNA Methylation Predicts Risk of Future Myocardial Infarction and Coronary Heart Disease. Circulation. 2019 08 20; 140(8):645-657. Agha G, Mendelson MM, Ward-Caviness CK, Joehanes R, Huan T, Gondalia R, Salfati E, Brody JA, Fiorito G, Bressler J, Chen BH, Ligthart S, Guarrera S, Colicino E, Just AC, Wahl S, Gieger C, Vandiver AR, Tanaka T, Hernandez DG, Pilling LC, Singleton AB, Sacerdote C, Krogh V, Panico S, Tumino R, Li Y, Zhang G, Stewart JD, Floyd JS, Wiggins KL, Rotter JI, Multhaup M, Bakulski K, Horvath S, Tsao PS, Absher DM, Vokonas P, Hirschhorn J, Fallin MD, Liu C, Bandinelli S, Boerwinkle E, Dehghan A, Schwartz JD, Psaty BM, Feinberg AP, Hou L, Ferrucci L, Sotoodehnia N, Matullo G, Peters A, Fornage M, Assimes TL, Whitsel EA, Levy D, Baccarelli AA. PMID: 31424985.
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    44. Family satisfaction in the trauma and surgical intensive care unit: another important quality measure. Trauma Surg Acute Care Open. 2019; 4(1):e000302. Maxim T, Alvarez A, Hojberg Y, Antoku D, Moneme C, Singleton A, Park C, Matsushima K. PMID: 31467981.
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    45. Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts. Neurol Genet. 2019 Aug; 5(4):e348. Iwaki H, Blauwendraat C, Leonard HL, Liu G, Maple-Grødem J, Corvol JC, Pihlstrøm L, van Nimwegen M, Hutten SJ, Nguyen KH, Rick J, Eberly S, Faghri F, Auinger P, Scott KM, Wijeyekoon R, Van Deerlin VM, Hernandez DG, Day-Williams AG, Brice A, Alves G, Noyce AJ, Tysnes OB, Evans JR, Breen DP, Estrada K, Wegel CE, Danjou F, Simon DK, Ravina B, Toft M, Heutink P, Bloem BR, Weintraub D, Barker RA, Williams-Gray CH, van de Warrenburg BP, Van Hilten JJ, Scherzer CR, Singleton AB, Nalls MA. PMID: 31404238.
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    46. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease. Mov Disord. 2019 09; 34(9):1333-1344. Fernández-Santiago R, Martín-Flores N, Antonelli F, Cerquera C, Moreno V, Bandres-Ciga S, Manduchi E, Tolosa E, Singleton AB, Moore JH, Martí MJ, Ezquerra M, Malagelada C. PMID: 31234232.
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    47. Common Premutations in the General Population. JAMA Neurol. 2019 06 01; 76(6):639-640. Hammer MB, Singleton AB. PMID: 30933218.
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    48. Genome-wide estimates of heritability and genetic correlations in essential tremor. Parkinsonism Relat Disord. 2019 07; 64:262-267. Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P. PMID: 31085086.
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    49. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019 05 02; 104(5):925-935. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S. PMID: 30982609.
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    50. Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and a-synuclein mechanisms. Mov Disord. 2019 06; 34(6):866-875. Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J, Eerola-Rautio J, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB. PMID: 30957308.
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    51. Heritability and genetic variance of dementia with Lewy bodies. Neurobiol Dis. 2019 07; 127:492-501. Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Bras J. PMID: 30953760.
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    52. Blepharospasm: A genetic screening study in 132 patients. Parkinsonism Relat Disord. 2019 07; 64:315-318. Hammer M, Abravanel A, Peckham E, Mahloogi A, Majounie E, Hallett M, Singleton A. PMID: 30956059.
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    53. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Ann Neurol. 2019 04; 85(4):470-481. Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ. PMID: 30723964.
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    54. A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study. Int J Geriatr Psychiatry. 2019 05; 34(5):692-699. Driscoll I, Snively BM, Espeland MA, Shumaker SA, Rapp SR, Goveas JS, Casanova RL, Wactawski-Wende J, Manson JE, Rossom R, Brooks J, Hernandez DG, Singleton AB, Resnick SM. PMID: 30706571.
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    55. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing. Nat Genet. 2019 03; 51(3):414-430. Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. PMID: 30820047.
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    56. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Mov Disord. 2019 04; 34(4):460-468. Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z, Cookson MR, Nalls MA, Singleton AB. PMID: 30675927.
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    57. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. J Alzheimers Dis. 2019; 67(1):159-167. Guven G, Bilgic B, Tufekcioglu Z, Erginel Unaltuna N, Hanagasi H, Gurvit H, Singleton A, Hardy J, Emre M, Gulec C, Bras J, Guerreiro R, Lohmann E. PMID: 30475763.
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    58. Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction. Clin Epigenetics. 2018 12 27; 10(1):161. PMID: 30587240.
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    59. A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease. Mov Disord. 2019 02; 34(2):298-299. Kristiansen M, Maple-Grødem J, Alves G, Arepalli S, Hernandez DG, Iwaki H, Nalls MA, Singleton A, Tysnes OB, Toft M, Pihlstrøm L. PMID: 30484896.
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    60. Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurol. 2018 11 01; 75(11):1416-1422. Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR. PMID: 30039155.
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    61. The Parkinson's progression markers initiative (PPMI) - establishing a PD biomarker cohort. Ann Clin Transl Neurol. 2018 Dec; 5(12):1460-1477. Marek K, Chowdhury S, Siderowf A, Lasch S, Coffey CS, Caspell-Garcia C, Simuni T, Jennings D, Tanner CM, Trojanowski JQ, Shaw LM, Seibyl J, Schuff N, Singleton A, Kieburtz K, Toga AW, Mollenhauer B, Galasko D, Chahine LM, Weintraub D, Foroud T, Tosun-Turgut D, Poston K, Arnedo V, Frasier M, Sherer T. PMID: 30564614.
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    62. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiol Aging. 2019 03; 75:223.e1-223.e10. Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, Ansorge O, Clarimon J, Lleo A, Morenas-Rodriguez E, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Barber I, Braae A, Brown K, Morgan K, Troakes C, Al-Sarraj S, Lashley T, Holton J, Compta Y, Van Deerlin V, Serrano GE, Beach TG, Lesage S, Galasko D, Masliah E, Santana I, Pastor P, Diez-Fairen M, Aguilar M, Tienari PJ, Myllykangas L, Oinas M, Revesz T, Lees A, Boeve BF, Petersen RC, Ferman TJ, Escott-Price V, Graff-Radford N, Cairns NJ, Morris JC, Pickering-Brown S, Mann D, Halliday GM, Hardy J, Trojanowski JQ, Dickson DW, Singleton A, Stone DJ, Guerreiro R, Bras J. PMID: 30448004.
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    63. Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus. Mov Disord. 2018 11; 33(11):1821-1823. Blauwendraat C, Bras JM, Nalls MA, Lewis PA, Hernandez DG, Singleton AB. PMID: 30302829.
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    64. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain. 2018 10 01; 141(10):2895-2907. Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E. PMID: 30252044.
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    65. A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease. Ann Neurol. 2018 07; 84(1):117-129. Pihlstrøm L, Blauwendraat C, Cappelletti C, Berge-Seidl V, Langmyhr M, Henriksen SP, van de Berg WDJ, Gibbs JR, Cookson MR, Singleton AB, Nalls MA, Toft M. PMID: 30146727.
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    66. Finding useful biomarkers for Parkinson's disease. Sci Transl Med. 2018 08 15; 10(454). Chen-Plotkin AS, Albin R, Alcalay R, Babcock D, Bajaj V, Bowman D, Buko A, Cedarbaum J, Chelsky D, Cookson MR, Dawson TM, Dewey R, Foroud T, Frasier M, German D, Gwinn K, Huang X, Kopil C, Kremer T, Lasch S, Marek K, Marto JA, Merchant K, Mollenhauer B, Naito A, Potashkin J, Reimer A, Rosenthal LS, Saunders-Pullman R, Scherzer CR, Sherer T, Singleton A, Sutherland M, Thiele I, van der Brug M, Van Keuren-Jensen K, Vaillancourt D, Walt D, West A, Zhang J. PMID: 30111645.
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    67. Shared biological pathways for frailty and cognitive impairment: A systematic review. Ageing Res Rev. 2018 11; 47:149-158. Sargent L, Nalls M, Starkweather A, Hobgood S, Thompson H, Amella EJ, Singleton A. PMID: 30102995.
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    68. Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease. Ann Neurol. 2018 08; 84(2):191-199. Kia DA, Noyce AJ, White J, Speed D, Nicolas A, Burgess S, Lawlor DA, Davey Smith G, Singleton A, Nalls MA, Sofat R, Wood NW. PMID: 30014513.
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    69. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurol. 2018 05 01; 75(5):591-599. Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A. PMID: 29482223.
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    70. Longitudinal Change of Clinical and Biological Measures in Early Parkinson's Disease: Parkinson's Progression Markers Initiative Cohort. Mov Disord. 2018 05; 33(5):771-782. Simuni T, Siderowf A, Lasch S, Coffey CS, Caspell-Garcia C, Jennings D, Tanner CM, Trojanowski JQ, Shaw LM, Seibyl J, Schuff N, Singleton A, Kieburtz K, Toga AW, Mollenhauer B, Galasko D, Chahine LM, Weintraub D, Foroud T, Tosun D, Poston K, Arnedo V, Frasier M, Sherer T, Chowdhury S, Marek K. PMID: 29572948.
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    71. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018 03 21; 97(6):1268-1283.e6. PMID: 29566793.
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    72. Genetic risk factors in Parkinson's disease. Cell Tissue Res. 2018 07; 373(1):9-20. PMID: 29536161.
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    73. Multimodal neuroimaging and behavioral assessment of a-synuclein polymorphism rs356219 in older adults. Neurobiol Aging. 2018 06; 66:32-39. Burciu RG, Seidler RD, Shukla P, Nalls MA, Singleton AB, Okun MS, Vaillancourt DE. PMID: 29505953.
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    74. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiol Aging. 2018 06; 66:179.e17-179.e29. Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J, Blumenau S, Thielke M, Josties C, Freyer D, Dietrich A, Hammer M, Baier M, Dirnagl U, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro R, Hodges A, Hardy J. PMID: 29544907.
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    75. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018 Feb; 4(1):e209. Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. PMID: 29379881.
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    76. Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+). Neurol Genet. 2018 Feb; 4(1):e211. Mäkelä M, Kaivola K, Valori M, Paetau A, Polvikoski T, Singleton AB, Traynor BJ, Stone DJ, Peuralinna T, Tienari PJ, Tanskanen M, Myllykangas L. PMID: 29379882.
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    77. Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Med. 2018 01 12; 10(1):4. Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK. PMID: 29329552.
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    78. Meta-analysis of epigenome-wide association studies of cognitive abilities. Mol Psychiatry. 2018 11; 23(11):2133-2144. Marioni RE, McRae AF, Bressler J, Colicino E, Hannon E, Li S, Prada D, Smith JA, Trevisi L, Tsai PC, Vojinovic D, Simino J, Levy D, Liu C, Mendelson M, Satizabal CL, Yang Q, Jhun MA, Kardia SLR, Zhao W, Bandinelli S, Ferrucci L, Hernandez DG, Singleton AB, Harris SE, Starr JM, Kiel DP, McLean RR, Just AC, Schwartz J, Spiro A, Vokonas P, Amin N, Ikram MA, Uitterlinden AG, van Meurs JBJ, Spector TD, Steves C, Baccarelli AA, Bell JT, van Duijn CM, Fornage M, Hsu YH, Mill J, Mosley TH, Seshadri S, Deary IJ. PMID: 29311653.
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    79. Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease. Neuropathol Appl Neurobiol. 2018 08; 44(5):506-521. Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro R, Bras J, Hernandez D, Singleton A, Francis PT, Hardy J, Morgan K. PMID: 29181857.
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    80. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiol Aging. 2018 04; 64:159.e5-159.e8. Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. PMID: 29398121.
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    81. Leucine rich repeat kinase knockout (LRRK KO) mouse model: Linking pathological hallmarks of inherited and sporadic Parkinson's disease. Mov Disord. 2018 01; 33(1):72. Roosen DA, Singleton AB. PMID: 29265552.
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    82. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol. 2018 01; 17(1):64-74. PMID: 29263008.
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    83. Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging. Sci Rep. 2017 12 04; 7(1):16890. Dillman AA, Majounie E, Ding J, Gibbs JR, Hernandez D, Arepalli S, Traynor BJ, Singleton AB, Galter D, Cookson MR. PMID: 29203886.
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    84. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Med. 2017 11 29; 9(1):100. Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK. PMID: 29183403.
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    85. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Orphanet J Rare Dis. 2017 11 02; 12(1):172. Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G. PMID: 29096665.
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    86. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017 11 01; 140(11):2820-2837. Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. PMID: 29053833.
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    87. Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease. Neurobiol Aging. 2018 02; 62:244.e1-244.e8. Chaudhury S, Patel T, Barber IS, Guetta-Baranes T, Brookes KJ, Chappell S, Turton J, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann D, Morgan K. PMID: 29103623.
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    88. Genetic risk factors in Finnish patients with Parkinson's disease. Parkinsonism Relat Disord. 2017 Dec; 45:39-43. Ylönen S, Siitonen A, Nalls MA, Ylikotila P, Autere J, Eerola-Rautio J, Gibbs R, Hiltunen M, Tienari PJ, Soininen H, Singleton AB, Majamaa K. PMID: 29029963.
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    89. Predicting progression in patients with Parkinson's disease. Lancet Neurol. 2017 11; 16(11):860-862. Blauwendraat C, Bandrés-Ciga S, Singleton AB. PMID: 28958800.
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    90. A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Nat Genet. 2017 Oct; 49(10):1511-1516. Chang D, Nalls MA, Hallgrímsdóttir IB, Hunkapiller J, van der Brug M, Cai F, Kerchner GA, Ayalon G, Bingol B, Sheng M, Hinds D, Behrens TW, Singleton AB, Bhangale TR, Graham RR. PMID: 28892059.
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    91. Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiol Aging. 2017 11; 59:220.e11-220.e18. Jansen IE, Gibbs JR, Nalls MA, Price TR, Lubbe S, van Rooij J, Uitterlinden AG, Kraaij R, Williams NM, Brice A, Hardy J, Wood NW, Morris HR, Gasser T, Singleton AB, Heutink P, Sharma M. PMID: 28867149.
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    92. Parkinson disease and clathrin coat dynamics at synapses, why not? Mov Disord. 2017 08; 32(8):1163. Saez-Atienzar S, Singleton AB. PMID: 28681957.
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    93. Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurol. 2017 07 01; 74(7):780-792. PMID: 28586827.
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    94. Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiol Aging. 2017 10; 58:240.e1-240.e3. Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. PMID: 28716534.
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    95. Make dopamine neurons great again: An exciting new therapeutic option in parkinson's disease. Mov Disord. 2017 08; 32(8):1164. Bonet-Ponce L, Singleton AB. PMID: 28631854.
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    96. Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Med. 2017 Jun; 14(6):e1002314. Noyce AJ, Kia DA, Hemani G, Nicolas A, Price TR, De Pablo-Fernandez E, Haycock PC, Lewis PA, Foltynie T, Davey Smith G, Schrag A, Lees AJ, Hardy J, Singleton A, Nalls MA, Pearce N, Lawlor DA, Wood NW. PMID: 28609445.
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    97. A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease. PLoS One. 2017; 12(6):e0178982. Hayete B, Wuest D, Laramie J, McDonagh P, Church B, Eberly S, Lang A, Marek K, Runge K, Shoulson I, Singleton A, Tanner C, Khalil I, Verma A, Ravina B. PMID: 28604798.
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    98. No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study. Mov Disord. 2017 Aug; 32(8):1249-1252. Larsson SC, Singleton AB, Nalls MA, Richards JB. PMID: 28594127.
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    99. Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology. 2017 Jul 04; 89(1):88-100. PMID: 28592453.
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    100. SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis. 2017; 17(4-5):208-212. Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB. PMID: 28558379.
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    101. Genetics of Hereditary Ataxia in Scottish Terriers. J Vet Intern Med. 2017 Jul; 31(4):1132-1139. Urkasemsin G, Nielsen DM, Singleton A, Arepalli S, Hernandez D, Agler C, Olby NJ. PMID: 28556454.
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    102. Multiple modality biomarker prediction of cognitive impairment in prospectively followed de novo Parkinson disease. PLoS One. 2017; 12(5):e0175674. PMID: 28520803.
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    103. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiol Aging. 2017 09; 57:247.e9-247.e13. Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ, Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. PMID: 28602509.
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    104. Transesophageal echocardiography in the evaluation of the trauma patient: A trauma resuscitation transesophageal echocardiography exam. J Crit Care. 2017 08; 40:202-206. PMID: 28433951.
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    105. NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality. J Am Soc Nephrol. 2017 Aug; 28(8):2311-2321. PMID: 28360221.
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    106. Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimers Dement. 2017 Aug; 13(8):858-869. Capozzo R, Sassi C, Hammer MB, Arcuti S, Zecca C, Barulli MR, Tortelli R, Gibbs JR, Crews C, Seripa D, Carnicella F, Dell'Aquila C, Rossi M, Tamma F, Valluzzi F, Brancasi B, Panza F, Singleton AB, Logroscino G. PMID: 28264768.
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    107. Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. Neurobiol Aging. 2017 05; 53:195.e7-195.e10. Siitonen A, Nalls MA, Hernández D, Gibbs JR, Ding J, Ylikotila P, Edsall C, Singleton A, Majamaa K. PMID: 28256260.
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    108. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biol. 2017 01 30; 18(1):22. Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM, Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. PMID: 28137300.
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    109. Novel genetic loci associated with hippocampal volume. Nat Commun. 2017 01 18; 8:13624. PMID: 28098162.
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    110. Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. J Alzheimers Dis. 2017; 56(4):1271-1278. Ferrari R, Grassi M, Graziano F, Palluzzi F, Archetti S, Bonomi E, Bruni AC, Maletta RG, Bernardi L, Cupidi C, Colao R, Rainero I, Rubino E, Pinessi L, Galimberti D, Scarpini E, Serpente M, Nacmias B, Piaceri I, Bagnoli S, Rossi G, Giaccone G, Tagliavini F, Benussi L, Binetti G, Ghidoni R, Singleton A, Hardy J, Momeni P, Padovani A, Borroni B. PMID: 28128768.
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    111. The Birth of the Modern Era of Parkinson's Disease Genetics. J Parkinsons Dis. 2017; 7(s1):S87-S93. Singleton AB, Hardy JA, Gasser T. PMID: 28282818.
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    112. Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet. 2016 12 15; 25(24):5483-5489. Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR. PMID: 27798102.
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    113. DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biol. 2016 12 12; 17(1):255. PMID: 27955697.
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    114. Genome-Wide Association Analysis of the Sense of Smell in U.S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans. Mol Neurobiol. 2017 Dec; 54(10):8021-8032. PMID: 27878761.
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    115. What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease. Neurobiol Aging. 2017 03; 51:148-155. PMID: 27939698.
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    116. A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Hum Mol Genet. 2016 11 01; 25(21):4611-4623. Huan T, Joehanes R, Schurmann C, Schramm K, Pilling LC, Peters MJ, Mägi R, DeMeo D, O'Connor GT, Ferrucci L, Teumer A, Homuth G, Biffar R, Völker U, Herder C, Waldenberger M, Peters A, Zeilinger S, Metspalu A, Hofman A, Uitterlinden AG, Hernandez DG, Singleton AB, Bandinelli S, Munson PJ, Lin H, Benjamin EJ, Esko T, Grabe HJ, Prokisch H, van Meurs JB, Melzer D, Levy D. PMID: 28158590.
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    117. Knowledge gaps and research recommendations for essential tremor. Parkinsonism Relat Disord. 2016 12; 33:27-35. PMID: 27769649.
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    118. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci. 2016 12; 19(12):1569-1582. PMID: 27694991.
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    119. DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging (Albany NY). 2016 09 28; 8(9):1844-1865. PMID: 27690265.
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    120. Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiol Aging. 2017 01; 49:215.e1-215.e8. Barber IS, Braae A, Clement N, Patel T, Guetta-Baranes T, Brookes K, Medway C, Chappell S, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann DM, Morgan K. PMID: 27776828.
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    121. Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet. 2016 Oct; 9(5):436-447. PMID: 27651444.
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    122. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One. 2016; 11(9):e0162592. Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R. PMID: 27632209.
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    123. A genome-wide association study in multiple system atrophy. Neurology. 2016 Oct 11; 87(15):1591-1598. PMID: 27629089.
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    124. Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes. 2016 Dec; 65(12):3794-3804. PMID: 27625022.
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    125. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging. 2017 01; 49:214.e13-214.e15. PMID: 27666590.
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    126. Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. Hum Mol Genet. 2016 10 01; 25(19):4350-4368. PMID: 27577874.
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    127. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging. 2016 11; 47:218.e1-218.e9. PMID: 27594680.
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    128. Arguing against the proposed definition changes of PD. Mov Disord. 2016 11; 31(11):1619-1622. PMID: 27492190.
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    129. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiol Aging. 2016 12; 48:222.e1-222.e7. Lubbe SJ, Escott-Price V, Brice A, Gasser T, Pittman AM, Bras J, Hardy J, Heutink P, Wood NM, Singleton AB, Grosset DG, Carroll CB, Law MH, Demenais F, Iles MM, Bishop DT, Newton-Bishop J, Williams NM, Morris HR. PMID: 27640074.
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    130. Menopause accelerates biological aging. Proc Natl Acad Sci U S A. 2016 08 16; 113(33):9327-32. PMID: 27457926.
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    131. Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging. 2016 10; 46:236.e1-6. Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. PMID: 27524508.
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    132. Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation. Parkinsonism Relat Disord. 2016 09; 30:83-5. Mehta SH, Dickson DW, Morgan JC, Singleton AB, Majounie E, Sethi KD. PMID: 27349602.
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    133. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Rep. 2016 06 28; 16(1):79-91. Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R, Hentati F, Baudry N, Tran J, Singleton AB, Coutelier M, Brice A, Stevanin G, Durr A, Bi X, Houlden H, Baudry M. PMID: 27320912.
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    134. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 2016 06 15; 90(6):1154-1163. Singleton A, Hardy J. PMID: 27311081.
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    135. The Effect of Perioperative Rescue Transesophageal Echocardiography on the Management of Trauma Patients. A A Case Rep. 2016 Jun 15; 6(12):387-90. Griffee MJ, Singleton A, Zimmerman JM, Morgan DE, Nirula R. PMID: 27301053.
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    136. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiol Dis. 2016 Oct; 94:55-62. Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB, Hardy JA, Troncoso JC, Scholz SW. PMID: 27312774.
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    137. Genome-wide assessment of Parkinson's disease in a Southern Spanish population. Neurobiol Aging. 2016 09; 45:213.e3-213.e9. Bandrés-Ciga S, Price TR, Barrero FJ, Escamilla-Sevilla F, Pelegrina J, Arepalli S, Hernández D, Gutiérrez B, Cervilla J, Rivera M, Rivera A, Ding JH, Vives F, Nalls M, Singleton A, Durán R. PMID: 27393345.
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    138. Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Genome Med. 2016 06 10; 8(1):65. Blauwendraat C, Francescatto M, Gibbs JR, Jansen IE, Simón-Sánchez J, Hernandez DG, Dillman AA, Singleton AB, Cookson MR, Rizzu P, Heutink P. PMID: 27287230.
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    139. Influence of Coding Variability in APP-Aß Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One. 2016; 11(6):e0150079. Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Bras J, Goate AM, Singleton AB, Guerreiro R, Hardy J. PMID: 27249223.
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    140. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis. 2016 05 30; 53(2):475-85. Sassi C, Capozzo R, Gibbs R, Crews C, Zecca C, Arcuti S, Copetti M, Barulli MR, Brescia V, Singleton AB, Logroscino G. PMID: 27258413.
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    141. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 07; 139(Pt 7):1904-18. PMID: 27217339.
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    142. ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiol Aging. 2016 10; 46:235.e1-9. Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, Almeida MR, Holstege H, Louwersheimer E, van der Flier WM, Scheltens P, Van Swieten JC, Santana I, Oliveira C, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro R, Hardy J. PMID: 27289440.
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    143. Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem. 2016 10; 139 Suppl 1:59-74. Hernandez DG, Reed X, Singleton AB. PMID: 27090875.
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    144. Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease. J Neurol Neurosurg Psychiatry. 2016 Oct; 87(10):1106-11. Kraemmer J, Smith K, Weintraub D, Guillemot V, Nalls MA, Cormier-Dequaire F, Moszer I, Brice A, Singleton AB, Corvol JC. PMID: 27076492.
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    145. CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study. Acta Neuropathol. 2016 06; 131(6):935-49. PMID: 27021906.
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    146. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurol. 2016 05; 15(6):585-96. Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ, Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW. PMID: 27017469.
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    147. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 03; 98(3):500-513. Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A. PMID: 26942284.
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    148. Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiol Aging. 2016 Mar; 39:220.e1-7. Barber IS, García-Cárdenas JM, Sakdapanichkul C, Deacon C, Zapata Erazo G, Guerreiro R, Bras J, Hernandez D, Singleton A, Guetta-Baranes T, Braae A, Clement N, Patel T, Brookes K, Medway C, Chappell S, Mann DM, Morgan K. PMID: 26803359.
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    149. Is the MC1R variant p.R160W associated with Parkinson's? Ann Neurol. 2016 Jan; 79(1):159-61. Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR. PMID: 26389967.
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    150. Plasma 24-metabolite Panel Predicts Preclinical Transition to Clinical Stages of Alzheimer's Disease. Front Neurol. 2015; 6:237. PMID: 26617567.
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    151. Genome-wide estimate of the heritability of Multiple System Atrophy. Parkinsonism Relat Disord. 2016 Jan; 22:35-41. PMID: 26589003.
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    152. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging. 2016 Feb; 38:214.e7-214.e10. Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns NJ, Halliday GM, Mann D, Pickering-Brown S, Powell J, Lunnon K, Lupton MK, Dickson D, Hardy J, Singleton A, Bras J. PMID: 26643944.
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    153. Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Medicine (Baltimore). 2015 Nov; 94(47):e1892. PMID: 26632684.
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    154. Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. Cell Rep. 2015 Nov 10; 13(6):1073-1080. Mou Z, Hyde TM, Lipska BK, Martinowich K, Wei P, Ong CJ, Hunter LA, Palaguachi GI, Morgun E, Teng R, Lai C, Condarco TA, Demidowich AP, Krause AJ, Marshall LJ, Haack K, Voruganti VS, Cole SA, Butte NF, Comuzzie AG, Nalls MA, Zonderman AB, Singleton AB, Evans MK, Martin B, Maudsley S, Tsao JW, Kleinman JE, Yanovski JA, Han JC. PMID: 26526993.
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    155. Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons. Physiol Genomics. 2016 Jan; 48(1):1-11. Pilling LC, Joehanes R, Kacprowski T, Peters M, Jansen R, Karasik D, Kiel DP, Harries LW, Teumer A, Powell J, Levy D, Lin H, Lunetta K, Munson P, Bandinelli S, Henley W, Hernandez D, Singleton A, Tanaka T, van Grootheest G, Hofman A, Uitterlinden AG, Biffar R, Gläser S, Homuth G, Malsch C, Völker U, Penninx B, van Meurs JB, Ferrucci L, Kocher T, Murabito J, Melzer D. PMID: 26487704.
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    156. Parkinson's disease: From human genetics to clinical trials. Sci Transl Med. 2015 Sep 16; 7(305):205ps20. van der Brug MP, Singleton A, Gasser T, Lewis PA. PMID: 26378242.
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    157. A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Hum Mol Genet. 2015 Dec 01; 24(23):6711-20. Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A, Bhatia K, Bras J. PMID: 26362251.
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    158. Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study. J Gerontol A Biol Sci Med Sci. 2016 08; 71(8):1029-35. Moore AZ, Hernandez DG, Tanaka T, Pilling LC, Nalls MA, Bandinelli S, Singleton AB, Ferrucci L. PMID: 26355017.
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    159. Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI). Mov Disord. 2016 Jan; 31(1):79-85. Nalls MA, Keller MF, Hernandez DG, Chen L, Stone DJ, Singleton AB. PMID: 26268663.
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    160. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. Lancet Neurol. 2015 Oct; 14(10):1002-9. PMID: 26271532.
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    161. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 Jul; 72(7):781-8. Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS. PMID: 25961151.
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    162. CHCHD2 and Parkinson's disease. Lancet Neurol. 2015 Jul; 14(7):678-9. Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M. PMID: 26067110.
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    163. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015 Jun; 1(1):e9. PMID: 27066548.
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    164. Gene expression markers of age-related inflammation in two human cohorts. Exp Gerontol. 2015 Oct; 70:37-45. Pilling LC, Joehanes R, Melzer D, Harries LW, Henley W, Dupuis J, Lin H, Mitchell M, Hernandez D, Ying SX, Lunetta KL, Benjamin EJ, Singleton A, Levy D, Munson P, Murabito JM, Ferrucci L. PMID: 26087330.
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    165. A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Neurobiol Aging. 2015 Oct; 36(10):2904.e13-26. Ferrari R, Grassi M, Salvi E, Borroni B, Palluzzi F, Pepe D, D'Avila F, Padovani A, Archetti S, Rainero I, Rubino E, Pinessi L, Benussi L, Binetti G, Ghidoni R, Galimberti D, Scarpini E, Serpente M, Rossi G, Giaccone G, Tagliavini F, Nacmias B, Piaceri I, Bagnoli S, Bruni AC, Maletta RG, Bernardi L, Postiglione A, Milan G, Franceschi M, Puca AA, Novelli V, Barlassina C, Glorioso N, Manunta P, Singleton A, Cusi D, Hardy J, Momeni P. PMID: 26154020.
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    166. EIF4G1 mutations do not cause Parkinson's disease. Neurobiol Aging. 2015 Aug; 36(8):2444.e1-4. Nichols N, Bras JM, Hernandez DG, Jansen IE, Lesage S, Lubbe S, Singleton AB. PMID: 26022768.
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    167. Cell Specific eQTL Analysis without Sorting Cells. PLoS Genet. 2015 May; 11(5):e1005223. Westra HJ, Arends D, Esko T, Peters MJ, Schurmann C, Schramm K, Kettunen J, Yaghootkar H, Fairfax BP, Andiappan AK, Li Y, Fu J, Karjalainen J, Platteel M, Visschedijk M, Weersma RK, Kasela S, Milani L, Tserel L, Peterson P, Reinmaa E, Hofman A, Uitterlinden AG, Rivadeneira F, Homuth G, Petersmann A, Lorbeer R, Prokisch H, Meitinger T, Herder C, Roden M, Grallert H, Ripatti S, Perola M, Wood AR, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Knight JC, Melchiotti R, Lee B, Poidinger M, Zolezzi F, Larbi A, Wang de Y, van den Berg LH, Veldink JH, Rotzschke O, Makino S, Salomaa V, Strauch K, Völker U, van Meurs JB, Metspalu A, Wijmenga C, Jansen RC, Franke L. PMID: 25955312.
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    168. Sedation and analgesia for critically ill pediatric burn patients: the current state of practice. J Burn Care Res. 2015 May-Jun; 36(3):440-5. Singleton A, Preston RJ, Cochran A. PMID: 25933050.
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    169. Genetics. For complex disease genetics, collaboration drives progress. Science. 2015 Mar 27; 347(6229):1422-3. Singleton AB, Traynor BJ. PMID: 25814571.
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    170. A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet. 2015 Mar; 11(3):e1005035. PMID: 25785607.
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    171. Genetic risk and age in Parkinson's disease: Continuum not stratum. Mov Disord. 2015 May; 30(6):850-4. Nalls MA, Escott-Price V, Williams NM, Lubbe S, Keller MF, Morris HR, Singleton AB. PMID: 25778492.
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    172. Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol. 2015 Apr; 77(4):582-91. Escott-Price V, Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM. PMID: 25773351.
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    173. Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res. 2015 Feb; 25(1):19-36. PMID: 25687905.
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    174. Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry. 2015 Dec; 20(12):1588-95. PMID: 25687773.
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    175. A new gene for Parkinson's disease: should we care? Lancet Neurol. 2015 Mar; 14(3):238-9. Singleton A. PMID: 25728432.
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    176. Common genetic variants influence human subcortical brain structures. Nature. 2015 Apr 09; 520(7546):224-9. PMID: 25607358.
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    177. X-linked Parkinson's disease. Mov Disord. 2015 Feb; 30(2):196. Singleton A. PMID: 25641059.
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    178. DNA methylation of lipid-related genes affects blood lipid levels. Circ Cardiovasc Genet. 2015 Apr; 8(2):334-42. Pfeiffer L, Wahl S, Pilling LC, Reischl E, Sandling JK, Kunze S, Holdt LM, Kretschmer A, Schramm K, Adamski J, Klopp N, Illig T, Hedman ÅK, Roden M, Hernandez DG, Singleton AB, Thasler WE, Grallert H, Gieger C, Herder C, Teupser D, Meisinger C, Spector TD, Kronenberg F, Prokisch H, Melzer D, Peters A, Deloukas P, Ferrucci L, Waldenberger M. PMID: 25583993.
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    179. Head injury, potential interaction with genes, and risk for Parkinson's disease. Parkinsonism Relat Disord. 2015 Mar; 21(3):292-6. Gao J, Liu R, Zhao E, Huang X, Nalls MA, Singleton AB, Chen H. PMID: 25603768.
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    180. A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord. 2015 Feb; 30(2):262-6. Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. PMID: 25545641.
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    181. Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Hum Mol Genet. 2015 Mar 01; 24(5):1504-12. PMID: 25378555.
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    182. LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 2014 Dec 09; 83(24):2256-61. Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. PMID: 25378673.
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    183. Whole blood gene expression and interleukin-6 levels. Genomics. 2014 Dec; 104(6 Pt B):490-5. Lin H, Joehanes R, Pilling LC, Dupuis J, Lunetta KL, Ying SX, Benjamin EJ, Hernandez D, Singleton A, Melzer D, Munson PJ, Levy D, Ferrucci L, Murabito JM. PMID: 25311648.
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    184. Another explanation for apparent epistasis. Nature. 2014 Oct 02; 514(7520):E3-5. Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN. PMID: 25279928.
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    185. Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Hum Mol Genet. 2015 Jan 15; 24(2):572-81. Li J, Lange LA, Duan Q, Lu Y, Singleton AB, Zonderman AB, Evans MK, Li Y, Taylor HA, Willis MS, Nalls M, Wilson JG, Lange EM. PMID: 25224454.
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    186. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 2014 Oct 14; 83(16):1476-8. Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. PMID: 25209579.
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    187. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. J Gerontol A Biol Sci Med Sci. 2015 Jan; 70(1):110-8. PMID: 25199915.
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    188. Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging. 2015 Feb; 36(2):1223.e1-2. Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB. PMID: 25281017.
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    189. A 6.4 Mb duplication of the a-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol. 2014 Sep; 71(9):1162-71. Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H. PMID: 25003242.
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    190. Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. JAMA Neurol. 2014 Sep; 71(9):1123-34. Keller MF, Ferrucci L, Singleton AB, Tienari PJ, Laaksovirta H, Restagno G, Chiò A, Traynor BJ, Nalls MA. PMID: 25023141.
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    191. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat Neurosci. 2014 Oct; 17(10):1418-1428. Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME. PMID: 25174004.
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    192. A genomic profile of the immune response to stroke with implications for stroke recovery. Biol Res Nurs. 2015 May; 17(3):248-56. Barr TL, VanGilder R, Rellick S, Brooks SD, Doll DN, Lucke-Wold AN, Chen D, Denvir J, Warach S, Singleton A, Matarin M. PMID: 25124890.
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    193. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. PLoS Genet. 2014 Aug; 10(8):e1004517. PMID: 25102180.
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    194. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar; 36(3):1605.e7-12. Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB. PMID: 25444595.
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    195. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging. 2015 Jan; 36(1):545.e9-14. Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E. PMID: 25174650.
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    196. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep; 46(9):989-93. Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. PMID: 25064009.
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    197. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain. 2014 Sep; 137(Pt 9):2480-92. Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW. PMID: 24993959.
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    198. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014 Jul; 13(7):686-99. PMID: 24943344.
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    199. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. 2014 Dec 01; 23(23):6139-46. Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson DW, Singleton A, Hardy J. PMID: 24973356.
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    200. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec; 35(12):2881.e1-2881.e6. Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J, Morgan K, Powell JF, Singleton A, Hardy J. PMID: 25104557.
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    201. FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet. Mol Psychiatry. 2015 Feb; 20(1):133-39. Chuang YF, Tanaka T, Beason-Held LL, An Y, Terracciano A, Sutin AR, Kraut M, Singleton AB, Resnick SM, Thambisetty M. PMID: 24863145.
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    202. Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet. 2014 Sep 15; 23(R1):R47-53. Guerreiro R, Brás J, Hardy J, Singleton A. PMID: 24794858.
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    203. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging. 2014 Oct; 35(10):2422.e13-6. Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, Harris J, Bras J, Morgan K, Powell JF, Singleton A, Hardy J. PMID: 24880964.
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    204. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol. 2014 Apr; 75(4):525-32. Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH. PMID: 24515897.
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    205. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014 May; 17(5):664-666. Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ. PMID: 24686783.
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    206. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014 Feb; 10(2):e1003991. Agler C, Nielsen DM, Urkasemsin G, Singleton A, Tonomura N, Sigurdsson S, Tang R, Linder K, Arepalli S, Hernandez D, Lindblad-Toh K, van de Leemput J, Motsinger-Reif A, O'Brien DP, Bell J, Harris T, Steinberg S, Olby NJ. PMID: 24516392.
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    207. Genetics. A unified process for neurological disease. Science. 2014 Jan 31; 343(6170):497-8. Singleton AB. PMID: 24482474.
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    208. Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mech Ageing Dev. 2014 Jan; 135:50-6. Holly AC, Pilling LC, Hernandez D, Lee BP, Singleton A, Ferrucci L, Melzer D, Harries LW. PMID: 24463145.
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    209. Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging. 2014 Jun; 35(6):1512.e5-1512.e10. Dong J, Gao J, Nalls M, Gao X, Huang X, Han J, Singleton AB, Chen H. PMID: 24439955.
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    210. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry. 2014 May; 85(5):486-92. Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. PMID: 24198383.
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    211. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 07; 93(5):976-83. Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. PMID: 24207122.
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    212. Association of cerebrospinal fluid ß-amyloid 1-42, T-tau, P-tau181, and a-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. JAMA Neurol. 2013 Oct; 70(10):1277-87. PMID: 23979011.
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    213. Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol. 2013 Oct; 70(10):1268-76. Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood N, Martinez M, Singleton AB, Nalls MA, Hardy J, Owen MJ, O'Donovan MC, Williams J, Morris HR, Williams NM. PMID: 23921447.
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    214. Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging. 2014 Feb; 35(2):442.e9-442.e16. Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB. PMID: 24080174.
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    215. NOTCH3 variants and risk of ischemic stroke. PLoS One. 2013; 8(9):e75035. Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R, Kinsella E, Wszolek ZK, Brott TG, Brown RD, Worrall BB, Meschia JF. PMID: 24086431.
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    216. Genetic comorbidities in Parkinson's disease. Hum Mol Genet. 2014 Feb 01; 23(3):831-41. Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, Hardy J, Martinez M, Singleton AB. PMID: 24057672.
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    217. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet. 2013; 9(9):e1003796. PMID: 24068962.
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    218. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet. 2013 Oct; 45(10):1238-1243. PMID: 24013639.
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    219. Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet. 2013 Sep 05; 93(3):545-54. PMID: 23972371.
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    220. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One. 2013; 8(8):e70724. Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V. PMID: 23967090.
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    221. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol. 2013 Sep; 260(9):2414-6. Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H. PMID: 23881105.
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    222. Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease. Int J Neurosci. 2013 Dec; 123(12):847-9. Thompson AJ, Scholz SW, Singleton AB, Hardwick A, McFarland NR, Okun MS. PMID: 23767969.
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    223. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun; 70(6):727-35. Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. PMID: 23588557.
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    224. Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One. 2013; 8(5):e64343. Wood AR, Perry JR, Tanaka T, Hernandez DG, Zheng HF, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, Richards JB, Bandinelli S, Ferrucci L, Singleton AB, Frayling TM. PMID: 23696881.
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    225. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology. 2013 May 28; 80(22):2042-8. Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF. PMID: 23645593.
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    226. Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. Am J Clin Nutr. 2013 Jun; 97(6):1395-402. PMID: 23636237.
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    227. Finding risk in all the right places. Neuron. 2013 Apr 24; 78(2):207-8. Singleton AB. PMID: 23622057.
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    228. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun; 45(6):690-6. PMID: 23583978.
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    229. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013 Jun; 45(6):621-31. PMID: 23583979.
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    230. Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol. 2013 Apr; 42(2):475-92. Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, Slooter AJ, Szolnoki Z, Sandhu M, Wareham N, Frikke-Schmidt R, Tybjærg-Hansen A, Fillenbaum G, Heijmans BT, Katsuya T, Gromadzka G, Singleton A, Ferrucci L, Hardy J, Worrall B, Rich SS, Matarin M, Whittaker J, Gaunt TR, Whincup P, Morris R, Deanfield J, Donald A, Davey Smith G, Kivimaki M, Kumari M, Smeeth L, Khaw KT, Nalls M, Meschia J, Sun K, Hui R, Day I, Hingorani AD, Casas JP. PMID: 23569189.
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    231. Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol. 2013 Apr; 20(4):e59. PMID: 23490116.
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    232. Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Hum Mol Genet. 2013 Jun 15; 22(12):2529-38. PMID: 23446634.
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    233. Variation in tau isoform expression in different brain regions and disease states. Neurobiol Aging. 2013 Jul; 34(7):1922.e7-1922.e12. Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, Nalls MA, Ferrucci L, Owen MJ, O'Donovan MC, Cookson MR, Singleton AB, de Silva R, Morris HR. PMID: 23428180.
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    234. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry. 2013 Jun; 84(6):666-73. Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC. PMID: 23408064.
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    235. No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease. Mov Disord. 2013 Aug; 28(9):1305-6. PMID: 23390085.
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    236. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet. 2013 Mar; 77(2):85-105. Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R. PMID: 23360175.
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    237. Towards a gene expression biomarker set for human biological age. Aging Cell. 2013 Apr; 12(2):324-6. Holly AC, Melzer D, Pilling LC, Henley W, Hernandez DG, Singleton AB, Bandinelli S, Guralnik JM, Ferrucci L, Harries LW. PMID: 23311345.
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    238. Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke. 2013 Mar; 44(3):612-9. Anderson CD, Biffi A, Nalls MA, Devan WJ, Schwab K, Ayres AM, Valant V, Ross OA, Rost NS, Saxena R, Viswanathan A, Worrall BB, Brott TG, Goldstein JN, Brown D, Broderick JP, Norrving B, Greenberg SM, Silliman SL, Hansen BM, Tirschwell DL, Lindgren A, Slowik A, Schmidt R, Selim M, Roquer J, Montaner J, Singleton AB, Kidwell CS, Woo D, Furie KL, Meschia JF, Rosand J. PMID: 23362085.
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    239. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013 Feb 07; 92(2):245-51. Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. PMID: 23332917.
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    240. Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet. 2013 May 15; 22(10):2119-27. Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Ritchie MD, Saip A, Crawford DC, Crane PK, Newton K, Carrell DS, Gallego CJ, Nalls MA, Li R, Mirel DB, Crenshaw A, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Zakai NA, Yango Q, Garcia M, Liu Y, Lumley T, Folsom AR, Reiner AP, Felix JF, Dehghan A, Wilson JG, Bis JC, Fox CS, Glazer NL, Cupples LA, Coresh J, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK, Larson EB, Carlson CS, Jarvik GP. PMID: 23314186.
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    241. A genome-wide association study of depressive symptoms. Biol Psychiatry. 2013 Apr 01; 73(7):667-78. PMID: 23290196.
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    242. The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord. 2013 Jan; 28(1):14-23. Singleton AB, Farrer MJ, Bonifati V. PMID: 23389780.
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    243. LRRK2: cause, risk, and mechanism. J Parkinsons Dis. 2013; 3(2):85-103. Paisán-Ruiz C, Lewis PA, Singleton AB. PMID: 23938341.
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    244. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013 Jan; 70(1):78-84. Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. PMID: 23318515.
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    245. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013 Feb; 45(2):145-54. PMID: 23263486.
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    246. Age-modulated association between prefrontal NAA and the BDNF gene. Int J Neuropsychopharmacol. 2013 Jul; 16(6):1185-93. Salehi B, Preuss N, van der Veen JW, Shen J, Neumeister A, Drevets WC, Hodgkinson C, Goldman D, Wendland JR, Singleton A, Gibbs JR, Cookson MR, Hasler G. PMID: 23253771.
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    247. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet. 2013 Mar 01; 22(5):1039-49. Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Sadd M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM. PMID: 23223016.
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    248. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat. 2013 Feb; 34(2):296-300. Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. PMID: 23086778.
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    249. Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. Heart Rhythm. 2013 Mar; 10(3):401-8. PMID: 23183192.
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    250. Age-associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging. 2013 Apr; 34(4):1199-209. Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MR. PMID: 23177596.
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    251. Impact of ancestry and common genetic variants on QT interval in African Americans. Circ Cardiovasc Genet. 2012 Dec; 5(6):647-55. PMID: 23166209.
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    252. TREM2 variants in Alzheimer's disease. N Engl J Med. 2013 Jan 10; 368(2):117-27. Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J. PMID: 23150934.
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    253. Cell population-specific expression analysis of human cerebellum. BMC Genomics. 2012 Nov 12; 13:610. Kuhn A, Kumar A, Beilina A, Dillman A, Cookson MR, Singleton AB. PMID: 23145530.
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    254. Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. Circ Cardiovasc Genet. 2012 Dec; 5(6):639-46. PMID: 23139255.
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    255. Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. Eur J Neurol. 2013 Mar; 20(3):486-92. Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB. PMID: 23043354.
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    256. Effect of complement CR1 on brain amyloid burden during aging and its modification by APOE genotype. Biol Psychiatry. 2013 Mar 01; 73(5):422-8. Thambisetty M, An Y, Nalls M, Sojkova J, Swaminathan S, Zhou Y, Singleton AB, Wong DF, Ferrucci L, Saykin AJ, Resnick SM. PMID: 23022416.
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    257. Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science. 2012 Oct 19; 338(6105):374-9. Schlebusch CM, Skoglund P, Sjödin P, Gattepaille LM, Hernandez D, Jay F, Li S, De Jongh M, Singleton A, Blum MG, Soodyall H, Jakobsson M. PMID: 22997136.
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    258. Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry. 2013 Jul; 18(7):788-98. PMID: 22889921.
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    259. Genome-wide association study of Tourette's syndrome. Mol Psychiatry. 2013 Jun; 18(6):721-8. PMID: 22889924.
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    260. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet. 2012 Nov 15; 21(22):4996-5009. Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA. PMID: 22892372.
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    261. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat. 2012 Dec; 33(12):1708-18. Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M. PMID: 22777693.
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    262. DYT16: the original cases. J Neurol Neurosurg Psychiatry. 2012 Oct; 83(10):1012-4. Camargos S, Lees AJ, Singleton A, Cardoso F. PMID: 22842711.
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    263. Genome wide assessment of young onset Parkinson's disease from Finland. PLoS One. 2012; 7(7):e41859. Hernandez DG, Nalls MA, Ylikotila P, Keller M, Hardy JA, Majamaa K, Singleton AB. PMID: 22911860.
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    264. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 2012 Sep; 124(3):325-38. Houlden H, Singleton AB. PMID: 22806825.
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    265. Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev. 2012 Aug; 133(8):556-62. Harries LW, Fellows AD, Pilling LC, Hernandez D, Singleton A, Bandinelli S, Guralnik J, Powell J, Ferrucci L, Melzer D. PMID: 22813852.
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    266. Alzheimer risk variant CLU and brain function during aging. Biol Psychiatry. 2013 Mar 01; 73(5):399-405. Thambisetty M, Beason-Held LL, An Y, Kraut M, Nalls M, Hernandez DG, Singleton AB, Zonderman AB, Ferrucci L, Lovestone S, Resnick SM. PMID: 22795969.
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    267. An exploratory analysis on gene-environment interactions for Parkinson disease. Neurobiol Aging. 2012 Oct; 33(10):2528.e1-6. Gao J, Nalls MA, Shi M, Joubert BR, Hernandez DG, Huang X, Hollenbeck A, Singleton AB, Chen H. PMID: 22763023.
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    268. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep; 135(Pt 9):2875-82. Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. PMID: 22740598.
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    269. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet. 2012 Sep 15; 21(18):4094-103. Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. PMID: 22723018.
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    270. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging. 2012 Oct; 33(10):2527.e1-2. Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. PMID: 22721568.
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    271. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 2012 Jul 10; 79(2):127-31. PMID: 22675081.
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    272. Genome-wide meta-analyses of smoking behaviors in African Americans. Transl Psychiatry. 2012 May 22; 2:e119. PMID: 22832964.
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    273. Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res. 2012 Aug; 15(4):395-404. Harries LW, Bradley-Smith RM, Llewellyn DJ, Pilling LC, Fellows A, Henley W, Hernandez D, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. PMID: 22607625.
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    274. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging. 2012 Aug; 33(8):1850.e17-27. Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H, Hanagasi HA, Luu N, Emre M, Singleton A. PMID: 22503161.
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    275. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607. PMID: 22479202.
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    276. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012; 8(3):e1002548. Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. PMID: 22438815.
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    277. The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet. 2012 Mar 31; 379(9822):1214-24. Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Redline S, Lange LA, Kumari M, Wareham NJ, Verschuren WM, Benjamin EJ, Whittaker JC, Hamsten A, Dudbridge F, Delaney JA, Wong A, Kuh D, Hardy R, Castillo BA, Connolly JJ, van der Harst P, Brunner EJ, Marmot MG, Wassel CL, Humphries SE, Talmud PJ, Kivimaki M, Asselbergs FW, Voevoda M, Bobak M, Pikhart H, Wilson JG, Hakonarson H, Reiner AP, Keating BJ, Sattar N, Hingorani AD, Casas JP. PMID: 22421340.
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    278. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012 Jul; 47(1):20-8. Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. PMID: 22433082.
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    279. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS One. 2012; 7(3):e28787. Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR. PMID: 22427796.
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    280. Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder. World J Biol Psychiatry. 2014 Apr; 15(3):200-8. Schulze TG, Akula N, Breuer R, Steele J, Nalls MA, Singleton AB, Degenhardt FA, Nöthen MM, Cichon S, Rietschel M, McMahon FJ. PMID: 22404658.
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    281. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. PLoS Genet. 2012; 8(3):e1002491. PMID: 22423221.
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    282. A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis. 2012 May; 46(2):389-92. PMID: 22349451.
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    283. Does trans size matter in Huntington disease? Neurology. 2012 Mar 06; 78(10):686-7. Ross OA, Singleton AB. PMID: 22323751.
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    284. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet. 2012 Jan 22; 44(3):260-8. PMID: 22267201.
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    285. CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength. Aging Cell. 2012 Apr; 11(2):262-8. Harries LW, Pilling LC, Hernandez LD, Bradley-Smith R, Henley W, Singleton AB, Guralnik JM, Bandinelli S, Ferrucci L, Melzer D. PMID: 22152057.
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    286. A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One. 2012; 7(1):e29202. PMID: 22238593.
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    287. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med. 2012 Jan 19; 366(3):283-4. Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ. PMID: 22216764.
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    288. The role of variation at AßPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis. 2012; 28(2):377-87. Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J. PMID: 22027014.
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    289. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging. 2012 May; 33(5):1008.e17-23. Guerreiro RJ, Lohmann E, Kinsella E, Brás JM, Luu N, Gurunlian N, Dursun B, Bilgic B, Santana I, Hanagasi H, Gurvit H, Gibbs JR, Oliveira C, Emre M, Singleton A. PMID: 22153900.
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    290. Using DNA methylation to understand biological consequences of genetic variability. Neurodegener Dis. 2012; 9(2):53-9. Hernandez DG, Singleton AB. PMID: 22123027.
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    291. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet. 2011 Oct; 7(10):e1002298. PMID: 21998595.
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    292. Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct; 10(10):942-6. Singleton AB. PMID: 21939903.
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    293. Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke. 2011 Oct; 42(10):2726-32. Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D, Ferrucci L, Pearce K, Keller M, Worrall BB. PMID: 21940970.
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    294. Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One. 2011; 6(9):e23161. Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG, Brown RD, Hardy J, Worrall BB. PMID: 21957438.
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    295. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20; 72(2):257-68. Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. PMID: 21944779.
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    296. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging. 2012 Jan; 33(1):209.e1-2. Majounie E, Traynor BJ, Chiò A, Restagno G, Mandrioli J, Benatar M, Taylor JP, Singleton AB. PMID: 21920633.
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    297. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011 Sep 11; 43(10):1005-11. PMID: 21909110.
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    298. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011 Sep 11; 478(7367):103-9. PMID: 21909115.
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    299. A network-based approach to prioritize results from genome-wide association studies. PLoS One. 2011; 6(9):e24220. Akula N, Baranova A, Seto D, Solka J, Nalls MA, Singleton A, Ferrucci L, Tanaka T, Bandinelli S, Cho YS, Kim YJ, Lee JY, Han BG, McMahon FJ. PMID: 21915301.
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    300. Parkinson's disease and a-synuclein expression. Mov Disord. 2011 Oct; 26(12):2160-8. Devine MJ, Gwinn K, Singleton A, Hardy J. PMID: 21887711.
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    301. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet. 2011 Oct 15; 20(R2):R158-62. Singleton A, Hardy J. PMID: 21875901.
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    302. Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet. 2011 Aug 13; 378(9791):584-94. Holmes MV, Newcombe P, Hubacek JA, Sofat R, Ricketts SL, Cooper J, Breteler MM, Bautista LE, Sharma P, Whittaker JC, Smeeth L, Fowkes FG, Algra A, Shmeleva V, Szolnoki Z, Roest M, Linnebank M, Zacho J, Nalls MA, Singleton AB, Ferrucci L, Hardy J, Worrall BB, Rich SS, Matarin M, Norman PE, Flicker L, Almeida OP, van Bockxmeer FM, Shimokata H, Khaw KT, Wareham NJ, Bobak M, Sterne JA, Smith GD, Talmud PJ, van Duijn C, Humphries SE, Price JF, Ebrahim S, Lawlor DA, Hankey GJ, Meschia JF, Sandhu MS, Hingorani AD, Casas JP. PMID: 21803414.
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    303. Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet. 2011 Oct 15; 20(20):4082-92. Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, Bandinelli S, Murray A, Ferrucci L, Singleton AB, Melzer D, Frayling TM. PMID: 21798870.
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    304. Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell. 2011 Oct; 10(5):868-78. Harries LW, Hernandez D, Henley W, Wood AR, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. PMID: 21668623.
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    305. Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet. 2011 Jun; 7(6):e1002108. Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, Austin MA, Dean E, Arepalli S, Britton A, Chen Z, Couper D, Curb JD, Eaton CB, Fornage M, Grant SF, Harris TB, Hernandez D, Kamatini N, Keating BJ, Kubo M, LaCroix A, Lange LA, Liu S, Lohman K, Meng Y, Mohler ER, Musani S, Nakamura Y, O'Donnell CJ, Okada Y, Palmer CD, Papanicolaou GJ, Patel KV, Singleton AB, Takahashi A, Tang H, Taylor HA, Taylor K, Thomson C, Yanek LR, Yang L, Ziv E, Zonderman AB, Folsom AR, Evans MK, Liu Y, Becker DM, Snively BM, Wilson JG. PMID: 21738479.
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    306. Multiple loci are associated with white blood cell phenotypes. PLoS Genet. 2011 Jun; 7(6):e1002113. Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M, Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou V, Felix JF, Völzke H, Gouskova NA, Biffi A, Döring A, Völker U, Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C, Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL, Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M, Tönjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B, Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S, Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK. PMID: 21738480.
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    307. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jun 19; 43(7):699-705. PMID: 21685912.
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    308. Exome sequencing in Parkinson's disease. Clin Genet. 2011 Aug; 80(2):104-9. Bras JM, Singleton AB. PMID: 21651510.
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    309. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by a-synuclein triplication (Iowa kindred). Mov Disord. 2011 Sep; 26(11):2134-6. Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A. PMID: 21656851.
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    310. Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiol Aging. 2011 Oct; 32(10):1924.e5-14. Stemberger S, Scholz SW, Singleton AB, Wenning GK. PMID: 21601954.
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    311. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011 May; 68(5):637-43. Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. PMID: 21555639.
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    312. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43(5):429-35. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J. PMID: 21460840.
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    313. Clinical features of patients with blepharospasm: a report of 240 patients. Eur J Neurol. 2011 Mar; 18(3):382-6. PMID: 20649903.
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    314. The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circ Cardiovasc Genet. 2011 Apr; 4(2):188-96. Anderson CD, Nalls MA, Biffi A, Rost NS, Greenberg SM, Singleton AB, Meschia JF, Rosand J. PMID: 21292865.
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    315. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19; 377(9766):641-9. Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW. PMID: 21292315.
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    316. Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet. 2011 Jun; 19(6):655-61. Simón-Sánchez J, van Hilten JJ, van de Warrenburg B, Post B, Berendse HW, Arepalli S, Hernandez DG, de Bie RM, Velseboer D, Scheffer H, Bloem B, van Dijk KD, Rivadeneira F, Hofman A, Uitterlinden AG, Rizzu P, Bochdanovits Z, Singleton AB, Heutink P. PMID: 21248740.
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    317. Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet. 2011 Mar 15; 20(6):1164-72. Hernandez DG, Nalls MA, Gibbs JR, Arepalli S, van der Brug M, Chong S, Moore M, Longo DL, Cookson MR, Traynor BJ, Singleton AB. PMID: 21216877.
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    318. APOE and AßPP gene variation in cortical and cerebrovascular amyloid-ß pathology and Alzheimer's disease: a population-based analysis. J Alzheimers Dis. 2011; 26(2):377-85. Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. PMID: 21654062.
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    319. Another locus, a new method. Brain. 2010 Dec; 133(Pt 12):3492-3. Singleton AB, Gibbs JR. PMID: 21126992.
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    320. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet. 2010 Dec 10; 87(6):890-7. Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R. PMID: 21087763.
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    321. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One. 2010 Nov 15; 5(11):e13950. Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J. PMID: 21085570.
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    322. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol. 2011 Apr; 258(4):647-55. Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR. PMID: 21072532.
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    323. Nature versus nurture: death of a dogma, and the road ahead. Neuron. 2010 Oct 21; 68(2):196-200. Traynor BJ, Singleton AB. PMID: 20955927.
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    324. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet. 2010 Oct 08; 87(4):567-9; author reply 569-70. Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. PMID: 20920669.
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    325. Towards a complete resolution of the genetic architecture of disease. Trends Genet. 2010 Oct; 26(10):438-42. Singleton AB, Hardy J, Traynor BJ, Houlden H. PMID: 20813421.
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    326. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010 Sep 15; 25(12):1791-800. Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. PMID: 20669327.
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    327. Genomic biomarkers and cellular pathways of ischemic stroke by RNA gene expression profiling. Neurology. 2010 Sep 14; 75(11):1009-14. Barr TL, Conley Y, Ding J, Dillman A, Warach S, Singleton A, Matarin M. PMID: 20837969.
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    328. Genetic variability at the PARK16 locus. Eur J Hum Genet. 2010 Dec; 18(12):1356-9. Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. PMID: 20683486.
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    329. Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet. 2010 Jul 22; 6(7):e1001035. Kapur K, Johnson T, Beckmann ND, Sehmi J, Tanaka T, Kutalik Z, Styrkarsdottir U, Zhang W, Marek D, Gudbjartsson DF, Milaneschi Y, Holm H, Diiorio A, Waterworth D, Li Y, Singleton AB, Bjornsdottir US, Sigurdsson G, Hernandez DG, Desilva R, Elliott P, Eyjolfsson GI, Guralnik JM, Scott J, Thorsteinsdottir U, Bandinelli S, Chambers J, Stefansson K, Waeber G, Ferrucci L, Kooner JS, Mooser V, Vollenweider P, Beckmann JS, Bochud M, Bergmann S. PMID: 20661308.
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    330. Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. J Neurol Neurosurg Psychiatry. 2011 Sep; 82(9):1059-60. Camargos ST, Gurgel-Giannetti J, Lees A, Hardy J, Singleton A, Cardoso F. PMID: 20551478.
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    331. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet. 2010 Aug 15; 19(16):3295-301. Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ. PMID: 20534741.
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    332. Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. Am J Hum Genet. 2010 Jun 11; 86(6):904-17. Biffi A, Anderson CD, Nalls MA, Rahman R, Sonni A, Cortellini L, Rost NS, Matarin M, Hernandez DG, Plourde A, de Bakker PI, Ross OA, Greenberg SM, Furie KL, Meschia JF, Singleton AB, Saxena R, Rosand J. PMID: 20537299.
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    333. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet. 2010 May 13; 6(5):e1000952. Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, Singleton AB. PMID: 20485568.
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    334. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord. 2010 Apr 30; 25(6):771-3. van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. PMID: 20437544.
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    335. POLG1 polyglutamine tract variants associated with Parkinson's disease. Neurosci Lett. 2010 Jun 14; 477(1):1-5. Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ. PMID: 20399836.
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    336. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010 May; 42(5):376-84. Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A, Teumer A, Paré G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS. PMID: 20383146.
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    337. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci. 2010 May; 33(5):211-9. Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. PMID: 20226542.
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    338. Genetic variability in CLU and its association with Alzheimer's disease. PLoS One. 2010 Mar 03; 5(3):e9510. Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J. PMID: 20209083.
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    339. The genetics of ischaemic stroke. J Intern Med. 2010 Feb; 267(2):139-55. Matarin M, Singleton A, Hardy J, Meschia J. PMID: 20175863.
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    340. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb; 31(2):E1126-40. Guerreiro RJ, Washecka N, Hardy J, Singleton A. PMID: 20020531.
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    341. Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol. 2010; 9:Article 13. Wang C, Szpiech ZA, Degnan JH, Jakobsson M, Pemberton TJ, Hardy JA, Singleton AB, Rosenberg NA. PMID: 20196748.
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    342. Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiol Aging. 2011 Mar; 32(3):548.e5-7. Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW. PMID: 20034704.
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    343. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb; 42(2):105-16. Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Ríos M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, Barroso I. PMID: 20081858.
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    344. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010 Feb; 42(2):142-8. Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH, Illig T, Wichmann HE, Wilson JF, van Duijn C, Hu FB, Morris AD, Frayling TM, Hattersley AT, Thorsteinsdottir U, Stefansson K, Nilsson P, Syvänen AC, Shuldiner AR, Walker M, Bornstein SR, Schwarz P, Williams GH, Nathan DM, Kuusisto J, Laakso M, Cooper C, Marmot M, Ferrucci L, Mooser V, Stumvoll M, Loos RJ, Altshuler D, Psaty BM, Rotter JI, Boerwinkle E, Hansen T, Pedersen O, Florez JC, McCarthy MI, Boehnke M, Barroso I, Sladek R, Froguel P, Meigs JB, Groop L, Wareham NJ, Watanabe RM. PMID: 20081857.
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    345. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul; 11(3):313-8. Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. PMID: 20039086.
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    346. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009 Dec; 41(12):1308-12. Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. PMID: 19915575.
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    347. A genome-wide association analysis of serum iron concentrations. Blood. 2010 Jan 07; 115(1):94-6. Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, Arking D, Walston JD, Fried LP, Singleton A, Guralnik J, Abecasis GR, Bandinelli S, Longo DL, Ferrucci L. PMID: 19880490.
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    348. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22; 361(17):1651-61. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. PMID: 19846850.
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    349. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet. 2009 Oct; 5(10):e1000685. Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. PMID: 19834535.
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    350. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009 Nov; 41(11):1191-8. Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP. PMID: 19862010.
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    351. A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Dis Assoc Disord. 2009 Oct-Dec; 23(4):415-7. Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J. PMID: 19571725.
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    352. A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Mol Syst Biol. 2009; 5:304. Liu W, Ding J, Gibbs JR, Wang SJ, Hardy J, Singleton A. PMID: 19756043.
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    353. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009 Oct; 41(10):1088-93. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J. PMID: 19734902.
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    354. Candidate gene polymorphisms for ischemic stroke. Stroke. 2009 Nov; 40(11):3436-42. Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Case LD, Chanock SJ, Metter EJ, Ferruci L, Gamble D, Hardy JA, Rich SS, Singleton A, Meschia JF. PMID: 19729601.
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    355. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009 Jun; 5(6):e1000536. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. PMID: 19557195.
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    356. Parkinson's disease and low frequency alleles found together throughout LRRK2. Ann Hum Genet. 2009 Jul; 73(Pt 4):391-403. Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH. PMID: 19489756.
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    357. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet. 2009 Jun; 41(6):648-50. Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E, Cherkas L, Eiriksdottir G, Estrada K, Ferrucci L, Folsom AR, Garcia M, Gudnason V, Hofman A, Karasik D, Kiel DP, Launer LJ, van Meurs J, Nalls MA, Rivadeneira F, Shuldiner AR, Singleton A, Soranzo N, Tanaka T, Visser JA, Weedon MN, Wilson SG, Zhuang V, Streeten EA, Harris TB, Murray A, Spector TD, Demerath EW, Uitterlinden AG, Murabito JM. PMID: 19448620.
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    358. Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Eur Heart J. 2009 Jul; 30(14):1711-9. Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D. PMID: 19435741.
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    359. What's the FUS! Lancet Neurol. 2009 May; 8(5):418-9. Traynor BJ, Singleton AB. PMID: 19375659.
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    360. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009 May; 65(5):610-4. Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. PMID: 19475667.
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    361. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May; 84(5):558-66. Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. PMID: 19375058.
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    363. Genomewide association studies and human disease. N Engl J Med. 2009 Apr 23; 360(17):1759-68. Hardy J, Singleton A. PMID: 19369657.
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    364. Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet. 2009 Jun; 46(6):375-81. Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW. PMID: 19351622.
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    365. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet. 2009 Apr; 84(4):477-82. Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, Abecasis GR, Schlessinger D, Uda M, Ferrucci L. PMID: 19303062.
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    366. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord. 2009 Mar 15; 24(4):613-6. Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. PMID: 19202559.
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    367. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009 Jul; 132(Pt 7):1783-94. Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. PMID: 19286695.
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    368. Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet. 2009 Mar; 5(3):e1000415. Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB. PMID: 19282984.
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    369. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics. 2009 Jul; 10(3):183-90. Nalls MA, Guerreiro RJ, Simon-Sanchez J, Bras JT, Traynor BJ, Gibbs JR, Launer L, Hardy J, Singleton AB. PMID: 19271249.
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    370. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009 Apr 15; 18(8):1524-32. Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. PMID: 19193627.
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    371. Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet. 2009 Feb; 84(2):235-50. Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P. PMID: 19215730.
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    372. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet. 2009 Feb; 84(2):123-33. Ferrucci L, Perry JR, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, Fried LP, Albanes D, Corsi AM, Cherubini A, Guralnik J, Bandinelli S, Singleton A, Virtamo J, Walston J, Semba RD, Frayling TM. PMID: 19185284.
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    373. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet. 2009 Jan; 5(1):e1000338. Tanaka T, Shen J, Abecasis GR, Kisialiou A, Ordovas JM, Guralnik JM, Singleton A, Bandinelli S, Cherubini A, Arnett D, Tsai MY, Ferrucci L. PMID: 19148276.
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    374. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Mov Disord. 2009 Jan 15; 24(1):138-40. Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. PMID: 18942080.
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    375. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol. 2009 Jan; 65(1):19-23. Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. PMID: 18570303.
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    376. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J. 2008 Dec; 275(23):5767-73. Bras J, Singleton A, Cookson MR, Hardy J. PMID: 19021754.
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    377. Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta. 2009 Jul; 1792(7):597-603. Bras JM, Singleton A. PMID: 19063963.
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    378. WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia. J Bone Miner Res. 2008 Nov 18. Timmons MM, Garbern J, Robey PG, Singleton A, Hernandez DG, Roodman GD, Zaltz I, Mumm S, Wilcox W, Fischbeck KH, Brady RO, Knight MA. PMID: 19016590.
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    379. Genome-wide association studies in neurological disorders. Lancet Neurol. 2008 Nov; 7(11):1067-72. Simón-Sánchez J, Singleton A. PMID: 18940696.
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    380. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One. 2008; 3(10):e3421. Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J. PMID: 18927607.
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    381. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet. 2009 Jan 15; 18(2):341-6. Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB. PMID: 18923002.
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    382. Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg. 2008 Oct; 139(4):495-505. Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman SB, Hallett M, Jinnah HA, Juergens U, Martin SB, Perlmutter JS, Sapienza C, Singleton A, Tanner CM, Woodson GE. PMID: 18922334.
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    383. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet. 2008 Oct; 83(4):520-8. Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V. PMID: 18940312.
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    384. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008 Dec 15; 17(24):3847-53. Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. PMID: 18801880.
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    385. Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Ann Neurol. 2008 Sep; 64(3):348-52. Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. PMID: 18661559.
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    386. Meeting report: consensus statement-Parkinson's disease and the environment: collaborative on health and the environment and Parkinson's Action Network (CHE PAN) conference 26-28 June 2007. Environ Health Perspect. 2009 Jan; 117(1):117-21. Bronstein J, Carvey P, Chen H, Cory-Slechta D, DiMonte D, Duda J, English P, Goldman S, Grate S, Hansen J, Hoppin J, Jewell S, Kamel F, Koroshetz W, Langston JW, Logroscino G, Nelson L, Ravina B, Rocca W, Ross GW, Schettler T, Schwarzschild M, Scott B, Seegal R, Singleton A, Steenland K, Tanner CM, Van Den Eeden S, Weisskopf M. PMID: 19165397.
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    387. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. 2008 Oct; 15(10):1065-70. Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. PMID: 18717728.
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    388. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May; 31(5):725-31. Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. PMID: 18667258.
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    389. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord. 2008 Jul 15; 23(9):1269-73. Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. PMID: 18464284.
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    390. Association, expression, pathobiology: is too much tau in PD a blueprint for genetic association? Neurology. 2008 Jul 01; 71(1):11-2. Singleton A, Morris H. PMID: 18591501.
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    391. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One. 2008 Jun 11; 3(6):e2450. Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ. PMID: 18545701.
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    392. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab. 2008 Aug; 93(8):3075-81. Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, Weedon MN, Singleton A, Hernandez D, Evans J, Durant C, Ferrucci L, Melzer D, Saravanan P, Visser TJ, Ceresini G, Hattersley AT, Vaidya B, Dayan CM, Frayling TM. PMID: 18492748.
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    393. Susceptibility genes in movement disorders. Mov Disord. 2008 May 15; 23(7):927-934. Scholz S, Singleton A. PMID: 18311830.
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    394. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 2008 May 09; 4(5):e1000072. Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucci L. PMID: 18464913.
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    395. Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant. Eur J Neurol. 2008 Jul; 15(7):692-6. Pchelina SN, Yakimovskii AF, Emelyanov AK, Ivanova ON, Schwarzman AL, Singleton AB. PMID: 18435766.
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    396. Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiol Aging. 2009 Dec; 30(12):1986-91. Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J. PMID: 18387709.
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    397. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat. 2008 Apr; 29(4):485-90. Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. PMID: 18213618.
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    398. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. PMID: 18369103.
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    399. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet. 2008 Jul 01; 17(13):1988-93. Simón-Sánchez J, Singleton AB. PMID: 18364387.
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    400. Association between AKT1 gene and Parkinson's disease: a protective haplotype. Neurosci Lett. 2008 May 09; 436(2):232-4. Xiromerisiou G, Hadjigeorgiou GM, Papadimitriou A, Katsarogiannis E, Gourbali V, Singleton AB. PMID: 18395980.
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    401. Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening. Mov Disord. 2008 Mar 15; 23(4):518-23. Clarimón J, Pagonabarraga J, Paisán-Ruíz C, Campolongo A, Pascual-Sedano B, Martí-Massó JF, Singleton AB, Kulisevsky J. PMID: 18098275.
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    402. Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke. 2008 May; 39(5):1586-9. Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF. PMID: 18340101.
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    403. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15; 70(16 Pt 2):1384-9. Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. PMID: 18337587.
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    404. Whole genome association studies: deciding when persistence becomes perseveration. . 2008 Mar 05; 147B(2):131-3. Hardy J, Low N, Singleton A. PMID: 17541974.
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    405. The HapMap: charting a course for genetic discovery in neurological diseases. Arch Neurol. 2008 Mar; 65(3):319-21. Hardy J, Singleton A. PMID: 18332243.
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    406. Structural genomic variation in ischemic stroke. Neurogenetics. 2008 May; 9(2):101-8. Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton AB. PMID: 18288507.
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    407. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008 Feb 21; 451(7181):998-1003. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. PMID: 18288195.
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    408. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar; 82(3):652-60. Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. PMID: 18304497.
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    409. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar; 7(3):207-15. Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. PMID: 18243799.
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    410. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat. 2008 Feb; 29(2):315-22. Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. PMID: 17994548.
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    411. Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Mov Disord. 2008 Jan 30; 23(2):299-302. Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A. PMID: 18044725.
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    412. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol. 2008 Jan 22; 8:1. Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. PMID: 18211709.
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    413. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med. 2008; 40(3):232-9. Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L. PMID: 18382889.
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    414. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging. 2009 Sep; 30(9):1515-7. Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. PMID: 18160183.
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    415. Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One. 2007 Dec 05; 2(12):e1254. Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA. PMID: 18060051.
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    416. Kinase signaling pathways as potential targets in the treatment of Parkinson's disease. Expert Rev Proteomics. 2007 Dec; 4(6):783-92. Greggio E, Singleton A. PMID: 18067416.
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    417. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec; 39(12):1434-6. Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Giunti P, Wood NW. PMID: 18037885.
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    418. Genome-wide association studies and ALS: are we there yet? Lancet Neurol. 2007 Oct; 6(10):841-3. Traynor BJ, Singleton A. PMID: 17884667.
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    419. Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation. Neurology. 2007 Oct 16; 69(16):1580-4. Goldstein DS, Imrich R, Peckham E, Holmes C, Lopez G, Crews C, Hardy J, Singleton A, Hallett M. PMID: 17625107.
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    420. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007; 4(5):386-91. Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. PMID: 17622782.
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    421. Reporting and interpretation of genetic variants in cases and controls. Neurology. 2007 Jul 03; 69(1):111-2. Hardy J, Singleton A. PMID: 17606889.
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    422. Association of integrin alpha2 gene variants with ischemic stroke. J Cereb Blood Flow Metab. 2008 Jan; 28(1):81-9. Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF. PMID: 17534386.
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    423. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun; 3(6):e108. van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. PMID: 17590087.
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    424. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007 May; 6(5):414-20. Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF. PMID: 17434096.
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    425. Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. Alcohol Clin Exp Res. 2007 Apr; 31(4):546-54. Clarimon J, Gray RR, Williams LN, Enoch MA, Robin RW, Albaugh B, Singleton A, Goldman D, Mulligan CJ. PMID: 17374033.
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    426. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007 Apr; 6(4):322-8. Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ. PMID: 17362836.
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    427. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry. 2007 Jul; 78(7):754-6. Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, Hutton M, Gass J, Cannon A, Rademakers R, Singleton AB, Hardiman O, Rothstein J, Hardy J, Traynor BJ. PMID: 17371905.
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    428. IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. Stroke. 2007 Apr; 38(4):1189-96. Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF. PMID: 17332449.
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    429. Lack of aggregation of ischemic stroke subtypes within affected sibling pairs. Neurology. 2007 Feb 06; 68(6):427-31. Wiklund PG, Brown WM, Brott TG, Stegmayr B, Brown RD, Nilsson-Ardnor S, Hardy JA, Kissela BM, Singleton A, Holmberg D, Rich SS, Meschia JF. PMID: 17283317.
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    430. Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii. Diabetes. 2007 Feb; 56(2):537-40. Kovac IP, Havlik RJ, Foley D, Peila R, Hernandez D, Wavrant-De Vrièze F, Singleton A, Egan J, Taub D, Rodriguez B, Masaki K, Curb JD, Fujimoto WY, Wilson AF. PMID: 17259404.
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    431. Establishing the genetic heterogeneity of familial hemiplegic migraine. Brain. 2007 Feb; 130(Pt 2):312-3. Low N, Singleton A. PMID: 17235123.
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    432. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord. 2007 Jan 15; 22(2):162-6. Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. PMID: 17133500.
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    433. Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. Eur J Neurol. 2007 Jan; 14(1):7-11. Xiromerisiou G, Hadjigeorgiou GM, Gourbali V, Johnson J, Papakonstantinou I, Papadimitriou A, Singleton AB. PMID: 17222106.
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    434. Smoking-responsive juvenile-onset Parkinsonism. Mov Disord. 2007 Jan; 22(1):115-9. Hanagasi HA, Lees A, Johnson JO, Singleton A, Emre M. PMID: 17080433.
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    435. BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups. Neurosci Lett. 2007 Mar 19; 415(1):59-63. Xiromerisiou G, Hadjigeorgiou GM, Eerola J, Fernandez HH, Tsimourtou V, Mandel R, Hellström O, Gwinn-Hardy K, Okun MS, Tienari PJ, Singleton AB. PMID: 17229524.
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    436. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurol. 2006 Dec 22; 6:47. Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. PMID: 17187665.
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    437. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006 Dec 13; 6:44. Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ. PMID: 17166276.
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    438. LRRK2 mutations in a clinic-based cohort of Parkinson's disease. Eur J Neurol. 2006 Dec; 13(12):1298-301. Scholz S, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Barton E, Munson S, Singleton A, Okun MS. PMID: 17116211.
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    439. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007 Jan 01; 16(1):1-14. Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. PMID: 17116639.
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    440. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2006 Nov; 5(11):911-6. Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A. PMID: 17052657.
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    441. Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord. 2006 Nov; 21(11):1954-9. Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J. PMID: 16991141.
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    442. Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet. 2006 Oct 06; 2(10):e150. Gibbs JR, Singleton A. PMID: 17029559.
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    443. Genetics of Parkinson's disease and parkinsonism. Ann Neurol. 2006 Oct; 60(4):389-98. Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. PMID: 17068789.
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