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Page 1
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Among authors: willsey aj. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Sanders SJ, et al. Among authors: willsey aj. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945. Nature. 2012. PMID: 22495306 Free PMC article.
Common genetic variants, acting additively, are a major source of risk for autism.
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH Jr, Roeder K, Devlin B. Klei L, et al. Among authors: willsey aj. Mol Autism. 2012 Oct 15;3(1):9. doi: 10.1186/2040-2392-3-9. Mol Autism. 2012. PMID: 23067556 Free PMC article.
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ. Chaste P, et al. Among authors: willsey aj. Biol Psychiatry. 2013 Oct 15;74(8):576-84. doi: 10.1016/j.biopsych.2013.04.018. Epub 2013 Jun 6. Biol Psychiatry. 2013. PMID: 23746936 Free PMC article.
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Willsey AJ, et al. Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020. Cell. 2013. PMID: 24267886 Free PMC article.
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH Jr, Kim SJ. Chaste P, et al. Among authors: willsey aj. Autism Res. 2014 Jun;7(3):355-62. doi: 10.1002/aur.1378. Epub 2014 May 12. Autism Res. 2014. PMID: 24821083 Free PMC article.
The contribution of de novo coding mutations to autism spectrum disorder.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. Iossifov I, et al. Among authors: willsey aj. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29. Nature. 2014. PMID: 25363768 Free PMC article.
Autism spectrum disorders: from genes to neurobiology.
Willsey AJ, State MW. Willsey AJ, et al. Curr Opin Neurobiol. 2015 Feb;30:92-9. doi: 10.1016/j.conb.2014.10.015. Epub 2014 Nov 28. Curr Opin Neurobiol. 2015. PMID: 25464374 Free PMC article. Review.
62 results