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Steven Gazal

Title(s)Assistant Professor of Preventive Medicine
Address1450 Biggy Street
Health Sciences Campus
Los Angeles CA 90033
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    From common to rare variant functional architectures of human diseases
    NIH/NHGRI R00HG010160Aug 12, 2020 - May 31, 2023
    Role: Principal Investigator
    From common to rare variant functional architectures of human diseases
    NIH/NHGRI K99HG010160Sep 7, 2018 - Jun 30, 2020
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Methotrexate and rheumatoid arthritis associated interstitial lung disease. Eur Respir J. 2020 Jul 09. Juge PA, Lee JS, Lau J, Kawano-Dourado L, Rojas Serrano J, Sebastiani M, Koduri G, Matteson E, Bonfiglioli K, Sawamura M, Kairalla R, Cavagna L, Bozzalla Cassione E, Manfredi A, Mejia M, Rodríguez-Henriquez P, González-Pérez MI, Falfán-Valencia R, Buendia-Roldán I, Pérez-Rubio G, Ebstein E, Gazal S, Borie R, Ottaviani S, Kannengiesser C, Wallaert B, Uzunhan Y, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Wemeau-Stervinou L, Flipo RM, Marchand-Adam S, Richette P, Allanore Y, Dromer C, Truchetet ME, Richez C, Schaeverbeke T, Lioté H, Thabut G, Deane KD, Solomon J, Doyle T, Ryu JH, Rosas I, Holers VM, Boileau C, Debray MP, Porcher R, Schwartz DA, Vassallo R, Crestani B, Dieudé P. PMID: 32646919.
      View in: PubMed   Mentions:    Fields:    
    2. Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nat Genet. 2020 Jul; 52(7):669-679. Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y. PMID: 32514122.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    3. Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability. Hum Mol Genet. 2020 May 08; 29(7):1057-1067. van de Geijn B, Finucane H, Gazal S, Hormozdiari F, Amariuta T, Liu X, Gusev A, Loh PR, Reshef Y, Kichaev G, Raychauduri S, Price AL. PMID: 31595288.
      View in: PubMed   Mentions: 1     Fields:    
    4. Liability threshold modeling of case-control status and family history of disease increases association power. Nat Genet. 2020 05; 52(5):541-547. Hujoel MLA, Gazal S, Loh PR, Patterson N, Price AL. PMID: 32313248.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    5. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 Dec 05; 105(6):1302. Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL. PMID: 31809749.
      View in: PubMed   Mentions:    Fields:    
    6. Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank. J Allergy Clin Immunol. 2020 Feb; 145(2):537-549. Zhu Z, Guo Y, Shi H, Liu CL, Panganiban RA, Chung W, O'Connor LJ, Himes BE, Gazal S, Hasegawa K, Camargo CA, Qi L, Moffatt MF, Hu FB, Lu Q, Cookson WOC, Liang L. PMID: 31669095.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    7. Functional disease architectures reveal unique biological role of transposable elements. Nat Commun. 2019 09 06; 10(1):4054. Hormozdiari F, van de Geijn B, Nasser J, Weissbrod O, Gazal S, Ju CJ, Connor LO, Hujoel MLA, Engreitz J, Hormozdiari F, Price AL. PMID: 31492842.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    8. Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. Am J Hum Genet. 2019 09 05; 105(3):456-476. O'Connor LJ, Schoech AP, Hormozdiari F, Gazal S, Patterson N, Price AL. PMID: 31402091.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    9. Reconciling S-LDSC and LDAK functional enrichment estimates. Nat Genet. 2019 08; 51(8):1202-1204. Gazal S, Marquez-Luna C, Finucane HK, Price AL. PMID: 31285579.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    10. Author Correction: Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2019 Aug; 51(8):1295. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. PMID: 31273336.
      View in: PubMed   Mentions:    Fields:    
    11. The Genetic Architecture of Chronic Mountain Sickness in Peru. Front Genet. 2019; 10:690. Gazal S, Espinoza JR, Austerlitz F, Marchant D, Macarlupu JL, Rodriguez J, Ju-Preciado H, Rivera-Chira M, Hermine O, Leon-Velarde F, Villafuerte FC, Richalet JP, Gouya L. PMID: 31417607.
      View in: PubMed   Mentions:
    12. Genes with High Network Connectivity Are Enriched for Disease Heritability. Am J Hum Genet. 2019 05 02; 104(5):896-913. Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL. PMID: 31051114.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    13. IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors. Am J Hum Genet. 2019 05 02; 104(5):879-895. Amariuta T, Luo Y, Gazal S, Davenport EE, van de Geijn B, Ishigaki K, Westra HJ, Teslovich N, Okada Y, Yamamoto K, Price AL, Raychaudhuri S. PMID: 31006511.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    14. Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species. Am J Hum Genet. 2019 04 04; 104(4):611-624. Hujoel MLA, Gazal S, Hormozdiari F, van de Geijn B, Price AL. PMID: 30905396.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    15. Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. Nat Commun. 2019 02 15; 10(1):790. Schoech AP, Jordan DM, Loh PR, Gazal S, O'Connor LJ, Balick DJ, Palamara PF, Finucane HK, Sunyaev SR, Price AL. PMID: 30770844.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    16. Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Am J Hum Genet. 2019 01 03; 104(1):65-75. Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL. PMID: 30595370.
      View in: PubMed   Mentions: 46     Fields:    Translation:Humans
    17. MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease. N Engl J Med. 2018 12 06; 379(23):2209-2219. Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P. PMID: 30345907.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    18. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018 11; 50(11):1600-1607. Gazal S, Loh PR, Finucane HK, Ganna A, Schoech A, Sunyaev S, Price AL. PMID: 30297966.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    19. Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. Nat Genet. 2018 10; 50(10):1483-1493. Reshef YA, Finucane HK, Kelley DR, Gusev A, Kotliar D, Ulirsch JC, Hormozdiari F, Nasser J, O'Connor L, van de Geijn B, Loh PR, Grossman SR, Bhatia G, Gazal S, Palamara PF, Pinello L, Patterson N, Adams RP, Price AL. PMID: 30177862.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    20. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. Eur J Hum Genet. 2018 12; 26(12):1759-1772. Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C. PMID: 30087447.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    21. Mixed-model association for biobank-scale datasets. Nat Genet. 2018 07; 50(7):906-908. Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. PMID: 29892013.
      View in: PubMed   Mentions: 49     Fields:    Translation:Humans
    22. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. Nat Genet. 2018 07; 50(7):1041-1047. Hormozdiari F, Gazal S, van de Geijn B, Finucane HK, Ju CJ, Loh PR, Schoech A, Reshef Y, Liu X, O'Connor L, Gusev A, Eskin E, Price AL. PMID: 29942083.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    23. Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits. Nat Genet. 2018 05; 50(5):737-745. Evans LM, Tahmasbi R, Vrieze SI, Abecasis GR, Das S, Gazal S, Bjelland DW, de Candia TR, Goddard ME, Neale BM, Yang J, Visscher PM, Keller MC. PMID: 29700474.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    24. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet. 2018 04; 50(4):621-629. Finucane HK, Reshef YA, Anttila V, Slowikowski K, Gusev A, Byrnes A, Gazal S, Loh PR, Lareau C, Shoresh N, Genovese G, Saunders A, Macosko E, Pollack S, Perry JRB, Buenrostro JD, Bernstein BE, Raychaudhuri S, McCarroll S, Neale BM, Price AL. PMID: 29632380.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansCells
    25. Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma. Genes Chromosomes Cancer. 2018 Jun; 57(6):294-303. Benfodda M, Gazal S, Descamps V, Basset-Seguin N, Deschamps L, Thomas L, Lebbe C, Saiag P, Zanetti R, Sacchetto L, Chiorino G, Scatolini M, Grandchamp B, Bensussan A, Soufir N. PMID: 29359367.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    26. Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis. RMD Open. 2017; 3(2):e000448. Juge PA, Gazal S, Constantin A, Mariette X, Combe B, Tebib J, Dougados M, Sibilia J, Le Loet X, Dieudé P. PMID: 29071117.
      View in: PubMed   Mentions:
    27. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet. 2017 Oct; 49(10):1421-1427. Gazal S, Finucane HK, Furlotte NA, Loh PR, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, Price AL. PMID: 28892061.
      View in: PubMed   Mentions: 35     Fields:    Translation:Humans
    28. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. Eur Respir J. 2017 05; 49(5). Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S, Boileau C, Crestani B, Dieudé P. PMID: 28495692.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    29. Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues. Am J Hum Genet. 2017 Apr 06; 100(4):605-616. Liu X, Finucane HK, Gusev A, Bhatia G, Gazal S, O'Connor L, Bulik-Sullivan B, Wright FA, Sullivan PF, Neale BM, Price AL. PMID: 28343628.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    30. High level of inbreeding in final phase of 1000 Genomes Project. Sci Rep. 2015 Dec 02; 5:17453. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. PMID: 26625947.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    31. Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. Nat Genet. 2015 Nov; 47(11):1334-40. Caye A, Strullu M, Guidez F, Cassinat B, Gazal S, Fenneteau O, Lainey E, Nouri K, Nakhaei-Rad S, Dvorsky R, Lachenaud J, Pereira S, Vivent J, Verger E, Vidaud D, Galambrun C, Picard C, Petit A, Contet A, Poirée M, Sirvent N, Méchinaud F, Adjaoud D, Paillard C, Nelken B, Reguerre Y, Bertrand Y, Häussinger D, Dalle JH, Ahmadian MR, Baruchel A, Chomienne C, Cavé H. PMID: 26457648.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    32. Relationship inference from the genetic data on parents or offspring: A comparative study. Theor Popul Biol. 2016 Feb; 107:31-8. Gazal S, Génin E, Leutenegger AL. PMID: 26431644.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    33. Can whole-exome sequencing data be used for linkage analysis? Eur J Hum Genet. 2016 Apr; 24(4):581-6. Gazal S, Gosset S, Verdura E, Bergametti F, Guey S, Babron MC, Tournier-Lasserve E. PMID: 26173971.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    34. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain. 2015 Aug; 138(Pt 8):2347-58. Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. PMID: 26063658.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    35. Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. Eur Respir J. 2015 Aug; 46(2):474-85. Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B. PMID: 26022962.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    36. Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. Int J Cancer. 2015 May 01; 136(9):2109-19. Ibarrola-Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset-Seguin N, Bensussan A, Bagot M, Saiag P, Schadendorf D, Martin-Gonzalez M, Mayor M, Grandchamp B, Ribas G, Soufir N. PMID: 25303718.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    37. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet. 2014 Oct; 51(10):689-97. Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H. PMID: 25097206.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    38. Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap III. Hum Hered. 2014; 77(1-4):49-62. Gazal S, Sahbatou M, Perdry H, Letort S, Génin E, Leutenegger AL. PMID: 25060269.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    39. SPP1 rs9138 variant contributes to the severity of radiological damage in anti-citrullinated protein autoantibody-negative rheumatoid arthritis. Ann Rheum Dis. 2014 Oct; 73(10):1840-3. Juge PA, van Steenbergen HW, Constantin A, Tobon GJ, Schaeverbeke T, Gazal S, Combe B, Devauchelle-Pensec V, Nigon D, van der Helm-van Mil AH, Dieude P. PMID: 24936586.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    40. A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed Res Int. 2014; 2014:925716. Hu HH, Benfodda M, Dumaz N, Gazal S, Descamps V, Bourillon A, Basset-Seguin N, Riffault A, Ezzedine K, Bagot M, Bensussan A, Saiag P, Grandchamp B, Soufir N. PMID: 24982914.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    41. FSuite: exploiting inbreeding in dense SNP chip and exome data. Bioinformatics. 2014 Jul 01; 30(13):1940-1. Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. PMID: 24632498.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    42. Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene. Ann Rheum Dis. 2015 Mar; 74(3):e19. Gazal S, Sacre K, Allanore Y, Teruel M, Goodall AH, Tohma S, Alfredsson L, Okada Y, Xie G, Constantin A, Balsa A, Kawasaki A, Nicaise P, Amos C, Rodriguez-Rodriguez L, Chiocchia G, Boileau C, Zhang J, Vittecoq O, Barnetche T, Gonzalez Gay MA, Furukawa H, Cantagrel A, Le Loët X, Sumida T, Hurtado-Nedelec M, Richez C, Chollet-Martin S, Schaeverbeke T, Combe B, Khoryati L, Coustet B, El-Benna J, Siminovitch K, Plenge R, Padyukov L, Martin J, Tsuchiya N, Dieudé P. PMID: 24448344.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    43. The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. PLoS One. 2013; 8(8):e70621. Borie R, Crestani B, Dieude P, Nunes H, Allanore Y, Kannengiesser C, Airo P, Matucci-Cerinic M, Wallaert B, Israel-Biet D, Cadranel J, Cottin V, Gazal S, Peljto AL, Varga J, Schwartz DA, Valeyre D, Grandchamp B. PMID: 23940607.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansCells
    44. Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed? Hum Hered. 2012; 74(3-4):142-52. Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL. PMID: 23594492.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    45. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 07; 91(6):1135-43. Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N. PMID: 23217329.
      View in: PubMed   Mentions: 43     Fields:    Translation:Humans
    46. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet. 2011 Jun 10; 88(6):718-728. Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. PMID: 21596366.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    47. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet. 2011 May; 19(5):583-7. Leutenegger AL, Sahbatou M, Gazal S, Cann H, Génin E. PMID: 21364699.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
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