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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Among authors: narayanan v. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: narayanan v. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: narayanan v. PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015. PLoS One. 2015. PMID: 26176221 Free PMC article.
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
Narayanan M, Ramsey K, Grebe T, Schrauwen I, Szelinger S, Huentelman M, Craig D, Narayanan V; C4RCD Research Group. Narayanan M, et al. Among authors: narayanan v. F1000Res. 2015 Sep 28;4:912. doi: 10.12688/f1000research.7106.1. eCollection 2015. F1000Res. 2015. PMID: 26535115 Free PMC article.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: narayanan v. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Among authors: narayanan v. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Feyma T, Ramsey K; C4RCD Research Group; Huentelman MJ, Craig DW, Padilla-Lopez S, Narayanan V, Kruer MC. Feyma T, et al. Among authors: narayanan v. Mov Disord. 2016 Nov;31(11):1752-1753. doi: 10.1002/mds.26800. Epub 2016 Sep 22. Mov Disord. 2016. PMID: 27653636 Free PMC article. No abstract available.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: narayanan v. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
564 results