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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN. Powis Z, et al. Among authors: sival da. Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29251763
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM, Veenstra-Knol HE, Vansenne F, Gerkes EH, de Koning T, Vos YJ, Tijssen MAJ, Sival D, Darin N, Vanhoutte EK, Oosterloo M, Pennings M, van de Warrenburg BP, Kamsteeg EJ. Wijnen IGM, et al. Eur J Hum Genet. 2020 Jun;28(6):763-769. doi: 10.1038/s41431-020-0600-5. Epub 2020 Mar 10. Eur J Hum Genet. 2020. PMID: 32157189 Free PMC article.
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA. de Geus CM, et al. Among authors: sival da. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23. Am J Med Genet C Semin Med Genet. 2017. PMID: 29168326 Free PMC article. Review.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. Tiosano D, et al. Among authors: sival da. PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 31034465 Free PMC article.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Among authors: sival da. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE; Tourette International Collaborative Genetics (TIC Genetics); Tourette Syndrome Association International Consortium for Genetics (TSAICG); Neale BM, Coppola G, Mathews CA, Tischfield JA, Scharf JM, State MW, Heiman GA. Willsey AJ, et al. Neuron. 2017 May 3;94(3):486-499.e9. doi: 10.1016/j.neuron.2017.04.024. Neuron. 2017. PMID: 28472652 Free PMC article.
105 results