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Matthew Deardorff

Title(s)Professor of Clinical Pathology and Pediatrics
Address4640 West Sunset Boulevard
Off Campus
Los Angeles CA 90027
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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. The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? Am J Med Genet A. 2020 Jul 20. Li D, Ahrens-Nicklas RC, Baker J, Bhambhani V, Calhoun A, Cohen JS, Deardorff MA, Fernández-Jaén A, Kamien B, Jain M, Mckenzie F, Mintz M, Motter C, Niles K, Ritter A, Rogers C, Roifman M, Townshend S, Ward-Melver C, Schrier Vergano SA. PMID: 32686290.
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    2. A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Sci Rep. 2020 Jul 02; 10(1):10827. Evans DR, Green JS, Fahiminiya S, Majewski J, Fernandez BA, Deardorff MA, Johnson GJ, Whelan JH, Hubmacher D, Apte SS, Woods MO. PMID: 32616716.
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    3. Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genet. 2020 Jul; 245:42-48. Rentas S, Pillai V, Wertheim GB, Akgumus GT, Nichols KE, Deardorff MA, Conlin LK, Li MM, Olson TS, Luo M. PMID: 32619790.
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    4. Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome. J Med Genet. 2020 May 19. Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A. PMID: 32430359.
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    5. Segmental congenital hemangiomas: Three cases of a rare entity. Pediatr Dermatol. 2020 May; 37(3):548-553. Smith RJ, Metry D, Deardorff MA, Heller E, Grand KL, Iacobas I, Rubin AI, Phung TL, Lopez-Terrada D, Steicher J, Cahill AM, Low D, Treat JR. PMID: 32255239.
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    6. NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet A. 2020 06; 182(6):1454-1459. Ritter A, Werner P, Latney B, Krock BL, Santani A, Bedoukian E, Skraban CM, Deardorff MA, Goldmuntz E. PMID: 32198970.
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    7. A Centralized Approach for Practicing Genomic Medicine. Pediatrics. 2020 03; 145(3). Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID. PMID: 32102930.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    8. A PIK3CA mutation in an acquired capillary malformation. Pediatr Dermatol. 2020 Jan; 37(1):246-247. Rosenthal J, Sibbald C, Jen M, Deardorff MA, Treat J. PMID: 31830321.
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    9. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. Am J Med Genet A. 2020 01; 182(1):162-168. Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. PMID: 31729162.
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    10. Cohesin complex-associated holoprosencephaly. Brain. 2019 09 01; 142(9):2631-2643. Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. PMID: 31334757.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimals
    11. Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):693-708. Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. PMID: 31469230.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    12. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 07 09; 12(1):105. Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. PMID: 31288860.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    13. Hematopoietic Stem Cell Transplant for the Treatment of X-MAID. Front Pediatr. 2019; 7:170. Henrickson SE, Andre-Schmutz I, Lagresle-Peyrou C, Deardorff MA, Jyonouchi H, Neven B, Bunin N, Heimall JR. PMID: 31139601.
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    14. Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2019 07; 179(7):1139-1147. Cohen JL, Duffy KA, Sajorda BJ, Hathaway ER, Gonzalez-Gandolfi CX, Richards-Yutz J, Gunter AT, Ganguly A, Kaplan J, Deardorff MA, Kalish JM. PMID: 31067005.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    15. HACE1 deficiency leads to structural and functional neurodevelopmental defects. Neurol Genet. 2019 Jun; 5(3):e330. Nagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM. PMID: 31321300.
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    16. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. Am J Hum Genet. 2019 04 04; 104(4):685-700. Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. PMID: 30929737.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    17. Molecular diagnosis of somatic overgrowth conditions: A single-center experience. Mol Genet Genomic Med. 2019 03; 7(3):e536. Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. PMID: 30761771.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    18. Beckwith-Wiedemann syndrome in diverse populations. Am J Med Genet A. 2019 04; 179(4):525-533. Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM. PMID: 30719840.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    19. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551. Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. PMID: 30719864.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    20. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. Eur J Hum Genet. 2019 04; 27(4):612-620. Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Tayoun ANA, Sarmady M. PMID: 30626929.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. PMID: 30614194.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    22. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. J Mol Diagn. 2019 01; 21(1):38-48. Baker SW, Murrell JR, Nesbitt AI, Pechter KB, Balciuniene J, Zhao X, Yu Z, Denenberg EH, DeChene ET, Wilkens AB, Bhoj EJ, Guan Q, Dulik MC, Conlin LK, Abou Tayoun AN, Luo M, Wu C, Cao K, Sarmady M, Bedoukian EC, Tarpinian J, Medne L, Skraban CM, Deardorff MA, Krantz ID, Krock BL, Santani AB. PMID: 30577886.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    23. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet. 2018 12 06; 103(6):995-1008. Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. PMID: 30471718.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    24. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 11; 20(11):1486. Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. PMID: 29419820.
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    25. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018 10; 19(10):649-666. Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. PMID: 29995837.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    26. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 10; 20(10):1298. Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Lou M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. PMID: 30377334.
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    27. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Am J Med Genet A. 2018 09; 176(9):1845-1851. Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J. PMID: 30055086.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    28. TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. Am J Hum Genet. 2018 06 07; 102(6):1104-1114. Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G. PMID: 29861107.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    29. Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. Am J Med Genet A. 2018 05; 176(5):1249-1252. Bedoukian E, Copenheaver D, Bale S, Deardorff M. PMID: 29681100.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    30. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. PMID: 29100089.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimalsCells
    31. Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. Genet Med. 2018 03; 20(3):329-336. Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. PMID: 29389922.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    32. A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A. 2017 Oct; 173(10):2758-2762. Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. PMID: 28777481.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    33. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 06; 101(1):139-148. Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. PMID: 28686853.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    34. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet. 2017 06 15; 26(12):2207-2217. Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG. PMID: 28419360.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    35. Phenotypes and genotypes in individuals with SMC1A variants. Am J Med Genet A. 2017 Aug; 173(8):2108-2125. Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. PMID: 28548707.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    36. Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A. 2017 08; 173(8):2293-2295. Postema FAM, Hopman SMJ, Deardorff MA, Merks JHM, Hennekam RC. PMID: 28544518.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    37. Nomenclature and definition in asymmetric regional body overgrowth. Am J Med Genet A. 2017 Jul; 173(7):1735-1738. Kalish JM, Biesecker LG, Brioude F, Deardorff MA, Di Cesare-Merlone A, Druley T, Ferrero GB, Lapunzina P, Larizza L, Maas S, Macchiaiolo M, Maher ER, Maitz S, Martinez-Agosto JA, Mussa A, Robinson P, Russo S, Selicorni A, Hennekam RC. PMID: 28475229.
      View in: PubMed   Mentions: 3     Fields:    
    38. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017 Jul; 173(7):1988-1991. Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE. PMID: 28447379.
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    39. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Am J Med Genet A. 2017 May; 173(5):1172-1185. Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE. PMID: 28190301.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    40. The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. Am J Med Genet A. 2017 Mar; 173(3):581-584. Duffy KA, Deardorff MA, Kalish JM. PMID: 28160403.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCellsPHPublic Health
    41. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb; 3(1):e130. Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. PMID: 28180185.
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    42. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. PMID: 28132692.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    43. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum Genet. 2017 03; 136(3):307-320. Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. PMID: 28120103.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    44. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug; 92(2):221-223. Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. PMID: 28111752.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
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    46. Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genet Med. 2017 06; 19(6):715-718. Bhoj EJ, Yu Z, Guan Q, Ahrens-Nicklas R, Cao K, Luo M, Tischler T, Deardorff MA, Zackai E, Santani AB. PMID: 27763634.
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    47. Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders. Protein Sci. 2016 11; 25(11):1965-1976. Deardorff MA, Porter NJ, Christianson DW. PMID: 27576763.
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    48. Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Am J Med Genet A. 2016 12; 170(12):3090-3097. Ahrens-Nicklas RC, Khan S, Garbarini J, Woyciechowski S, D'Alessandro L, Zackai EH, Deardorff MA, Goldmuntz E. PMID: 27605484.
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    49. Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? Am J Med Genet A. 2016 09; 170(9):2261-4. Kalish JM, Deardorff MA. PMID: 27518916.
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    50. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD Rep. 2017; 34:43-47. Ganetzky RD, Bedoukian E, Deardorff MA, Ficicioglu C. PMID: 27515243.
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    52. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Am J Med Genet A. 2016 10; 170(10):2632-7. Graham JM, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA. PMID: 27151206.
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    53. Dr. Laird G. Jackson Festschrift. Am J Med Genet C Semin Med Genet. 2016 Jun; 172(2):72-5. Noon SE, Deardorff MA, Krantz ID. PMID: 27148798.
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    55. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Am J Med Genet C Semin Med Genet. 2016 06; 172(2):163-70. Kaur M, Mehta D, Noon SE, Deardorff MA, Zhang Z, Krantz ID. PMID: 27125329.
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    56. Characterization of limb differences in children with Cornelia de Lange Syndrome. Am J Med Genet C Semin Med Genet. 2016 06; 172(2):155-62. Mehta D, Vergano SA, Deardorff M, Aggarwal S, Barot A, Johnson DM, Miller NF, Noon SE, Kaur M, Jackson L, Krantz ID. PMID: 27120260.
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    57. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol. 2016 05; 34(5):531-8. Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. PMID: 27065010.
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    58. ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD Rep. 2016; 30:33-37. Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. PMID: 26920905.
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    60. MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat. 2016 Mar; 37(3):308-14. Werner P, Latney B, Deardorff MA, Goldmuntz E. PMID: 26694203.
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    61. Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2016 Jan 18; 10:5. Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H. PMID: 26782110.
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    62. Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2015 Nov 11; 9:31. Liu Y, Li Y, March ME, Nguyen K, Kenny N, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H. PMID: 26561035.
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    63. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016 Jan; 53(1):53-61. Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA. PMID: 26545876.
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    64. Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders. Biochemistry. 2015 Oct 27; 54(42):6501-13. Decroos C, Christianson NH, Gullett LE, Bowman CM, Christianson KE, Deardorff MA, Christianson DW. PMID: 26463496.
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    65. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14. Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. PMID: 26424144.
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    66. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 03; 97(3):457-64. Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. PMID: 26299366.
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    67. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. Hum Genomics. 2015 Jul 19; 9:15. Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, Vetter VL. PMID: 26187847.
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    68. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Mol Genet Genomic Med. 2015 Sep; 3(5):452-8. Ganetzky R, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrath JA, Zackai E, Lemmon MA, Sondheimer N. PMID: 26436111.
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    69. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A. 2015 Oct; 167A(10):2411-7. Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J. PMID: 26033833.
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    70. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Am J Med Genet A. 2015 Jun; 167(6):1179-92. Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. PMID: 25899772.
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    71. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62. Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. PMID: 25655089.
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    72. Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet. 2015 Apr; 47(4):338-44. Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. PMID: 25730767.
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    73. Melorheostosis: segmental osteopoikilosis or a separate entity? J Pediatr Orthop. 2015 Mar; 35(2):e13-7. Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP. PMID: 25575356.
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    74. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet. 2015 Jan 08; 96(1):121-35. Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. PMID: 25574826.
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    75. Clinical utility gene card for: Cornelia de Lange syndrome. Eur J Hum Genet. 2015 Oct; 23(10). Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. PMID: 25537356.
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    76. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb; 52(2):104-10. Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. PMID: 25412741.
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    77. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):252-6. Vergano SS, Deardorff MA. PMID: 25169447.
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    78. Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ACS Chem Biol. 2014 Sep 19; 9(9):2157-64. Decroos C, Bowman CM, Moser JA, Christianson KE, Deardorff MA, Christianson DW. PMID: 25075551.
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    79. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. PMID: 24791903.
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    80. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. Eur J Hum Genet. 2015 Feb; 23(2):264-6. Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. PMID: 24781753.
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    81. Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts. Am J Med Genet A. 2014 Jun; 164A(6):1384-93. Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D. PMID: 24504889.
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    82. Telemedicine for genetic and neurologic evaluation in the neonatal intensive care unit. J Perinatol. 2014 Mar; 34(3):234-40. Wenger TL, Gerdes J, Taub K, Swarr DT, Deardorff MA, Abend NS. PMID: 24406740.
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    83. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 01; 23(11):2888-900. Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. PMID: 24403048.
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    84. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. J Invest Dermatol. 2014 Mar; 134(3):658-665. Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. PMID: 24008425.
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    85. PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A. 2013 Sep; 161A(9):2134-47. Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID. PMID: 23897863.
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    86. Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations. Am J Med Genet A. 2013 Sep; 161A(9):2148-57. Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID. PMID: 23873582.
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    87. Immunologic features of Cornelia de Lange syndrome. Pediatrics. 2013 Aug; 132(2):e484-9. Jyonouchi S, Orange J, Sullivan KE, Krantz I, Deardorff M. PMID: 23821697.
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    88. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A. 2013 Aug; 161A(8):1929-39. Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. PMID: 23804593.
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    89. Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):102-5. Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. PMID: 23746553.
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    90. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001. Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. PMID: 23532898.
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    91. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet. 2013 Mar 07; 92(3):392-400. Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. PMID: 23453666.
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    92. A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A. 2013 Feb; 161A(2):371-6. Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP. PMID: 23307527.
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    93. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. Am J Med Genet A. 2013 Jan; 161A(1):166-71. Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. PMID: 23225330.
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    94. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A. 2012 Dec; 158A(12):3046-53. Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. PMID: 23169773.
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    95. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res. 2012 Dec 07; 11(12):6111-23. Gimigliano A, Mannini L, Bianchi L, Puglia M, Deardorff MA, Menga S, Krantz ID, Musio A, Bini L. PMID: 23106691.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    96. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13; 489(7415):313-7. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. PMID: 22885700.
      View in: PubMed   Mentions: 178     Fields:    Translation:HumansCells
    97. Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. Am J Med Genet A. 2012 Oct; 158A(10):2499-505. Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID. PMID: 22965847.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    98. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1841-7. Nakanishi M, Deardorff MA, Clark D, Levy SE, Krantz I, Pipan M. PMID: 22740374.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    99. Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A. 2012 Aug; 158A(8):1848-56. Clark DM, Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, Krantz ID. PMID: 22740382.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    100. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012 Aug; 158A(8):1865-76. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. PMID: 22711679.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    101. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet. 2012 Jun 08; 90(6):1014-27. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. PMID: 22633399.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansAnimalsCells
    102. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012 Feb 26; 44(4):445-9, S1. Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. PMID: 22366787.
      View in: PubMed   Mentions: 70     Fields:    Translation:HumansCells
    103. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22. Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. PMID: 22241092.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    104. Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations. Front Immunol. 2011; 2:61. Keller MD, Petersen M, Ong P, Church J, Risma K, Burham J, Jain A, Stiehm ER, Hanson EP, Uzel G, Deardorff MA, Orange JS. PMID: 22566850.
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    105. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A. 2011 Dec; 155A(12):3007-24. Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. PMID: 22069164.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    106. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet. 2012 Mar; 20(3):271-6. Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. PMID: 21934712.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    107. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18; 365(7):611-9. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. PMID: 21793738.
      View in: PubMed   Mentions: 201     Fields:    Translation:HumansCells
    108. Neutral mitochondrial heteroplasmy and the influence of aging. Hum Mol Genet. 2011 Apr 15; 20(8):1653-9. Sondheimer N, Glatz CE, Tirone JE, Deardorff MA, Krieger AM, Hakonarson H. PMID: 21296868.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    109. Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. BMC Med. 2011 Feb 03; 9:13. Deardorff MA, Sainz J, Grant SF. PMID: 21291539.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    110. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome. Am J Med Genet A. 2011 Jan; 155A(1):33-7. Lambert MP, Jackson LG, Clark D, Kaur M, Krantz ID, Deardorff MA. PMID: 21204208.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    111. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A. 2010 Jul; 152A(7):1641-53. Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. PMID: 20583156.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    112. Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res. 2010 Sep; 38(17):5657-71. Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Li JR, Clark D, Kaur M, Tatsuro K, Kline AD, Chang C, Vega H, Jackson LG, Spinner NB, Shirahige K, Krantz ID. PMID: 20448023.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    113. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A. 2010 May; 152A(5):1326-7. Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. PMID: 20425846.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    114. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A. 2010 Apr; 152A(4):924-9. Pié J, Gil-Rodríguez MC, Ciero M, López-Viñas E, Ribate MP, Arnedo M, Deardorff MA, Puisac B, Legarreta J, de Karam JC, Rubio E, Bueno I, Baldellou A, Calvo MT, Casals N, Olivares JL, Losada A, Hegardt FG, Krantz ID, Gómez-Puertas P, Ramos FJ. PMID: 20358602.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    115. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010 Mar; 42(3):203-9. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. PMID: 20154674.
      View in: PubMed   Mentions: 208     Fields:    Translation:HumansCells
    116. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010 Apr 01; 19(7):1263-75. Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB. PMID: 20053666.
      View in: PubMed   Mentions: 118     Fields:    Translation:HumansCells
    117. SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42. Liu J, Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID. PMID: 19701948.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    118. Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet A. 2009 Oct; 149A(10):2181-92. Hunter AG, Collins JS, Deardorff MA, Krantz ID. PMID: 19764039.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    119. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A. 2009 Aug; 149A(8):1842-5. Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH. PMID: 19610101.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    120. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 2009 May 05; 7(5):e1000119. Liu J, Zhang Z, Bando M, Itoh T, Deardorff MA, Clark D, Kaur M, Tandy S, Kondoh T, Rappaport E, Spinner NB, Vega H, Jackson LG, Shirahige K, Krantz ID. PMID: 19468298.
      View in: PubMed   Mentions: 106     Fields:    Translation:Cells
    121. Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies. PLoS One. 2009; 4(5):e5232. Zhang B, Chang J, Fu M, Huang J, Kashyap R, Salavaggione E, Jain S, Kulkarni S, Shashikant K, Deardorff MA, Uzielli ML, Dorsett D, Beebe DC, Jay PY, Heuckeroth RO, Krantz I, Milbrandt J. PMID: 19412548.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimalsCells
    122. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab. 2008 Aug; 94(4):498-502. Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. PMID: 18524659.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    123. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Feb; 28(2):204-5. Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. PMID: 17221874.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    124. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar; 80(3):485-94. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. PMID: 17273969.
      View in: PubMed   Mentions: 165     Fields:    Translation:HumansCells
    125. The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr. 2006 Jun; 148(6):779-83. Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR. PMID: 16769386.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    126. Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. Am J Med Genet A. 2004 Nov 01; 130A(4):393-4. Deardorff MA, Maisenbacher M, Zackai EH. PMID: 15455365.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    127. Kermit, a frizzled interacting protein, regulates frizzled 3 signaling in neural crest development. Development. 2001 Oct; 128(19):3665-74. Tan C, Deardorff MA, Saint-Jeannet JP, Yang J, Arzoumanian A, Klein PS. PMID: 11585793.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    128. A role for frizzled 3 in neural crest development. Development. 2001 Oct; 128(19):3655-63. Deardorff MA, Tan C, Saint-Jeannet JP, Klein PS. PMID: 11585792.
      View in: PubMed   Mentions: 30     Fields:    Translation:AnimalsCells
    129. Regulation of eye development by frizzled signaling in Xenopus. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3861-6. Rasmussen JT, Deardorff MA, Tan C, Rao MS, Klein PS, Vetter ML. PMID: 11274406.
      View in: PubMed   Mentions: 23     Fields:    Translation:Animals
    130. Regulation of glycogen synthase kinase 3beta and downstream Wnt signaling by axin. Mol Cell Biol. 1999 Oct; 19(10):7147-57. Hedgepeth CM, Deardorff MA, Rankin K, Klein PS. PMID: 10490650.
      View in: PubMed   Mentions: 36     Fields:    Translation:AnimalsCells
    131. Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites. Mech Dev. 1999 Sep; 87(1-2):229-33. Deardorff MA, Klein PS. PMID: 10495293.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    132. Xenopus axin interacts with glycogen synthase kinase-3 beta and is expressed in the anterior midbrain. Mech Dev. 1999 Feb; 80(2):147-51. Hedgepeth CM, Deardorff MA, Klein PS. PMID: 10072781.
      View in: PubMed   Mentions: 8     Fields:    Translation:AnimalsCells
    133. The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation. Calcif Tissue Int. 1998 Sep; 63(3):221-9. Shore EM, Xu M, Shah PB, Janoff HB, Hahn GV, Deardorff MA, Sovinsky L, Spinner NB, Zasloff MA, Wozney JM, Kaplan FS. PMID: 9701626.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    134. Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis. Development. 1998 Jul; 125(14):2687-700. Deardorff MA, Tan C, Conrad LJ, Klein PS. PMID: 9636083.
      View in: PubMed   Mentions: 33     Fields:    Translation:AnimalsCells
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