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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: barnett c. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Among authors: barnett c. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium; Friend K, Bain SM, Yu S. Nicholl J, et al. Among authors: barnett c. Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043. Pathology. 2014. PMID: 24300712
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Mirzaa GM, et al. Among authors: barnett s, barnett c. Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29. Lancet Neurol. 2015. PMID: 26520804 Free PMC article.
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Geisheker MR, et al. Among authors: barnett c. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19. Nat Neurosci. 2017. PMID: 28628100 Free PMC article.
1,058 results