Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Pinto, D.; Delaby, Elsa; Delaby, Elsa; Delaby, Elsa; Merico, D.; Barbosa, M.; K. Merikangas, Alison; Klei, L.; Thiruvahindrapuram, B.; Xu, Xiao; Ziman, R.; Wang, Zhuozhi; Vorstman, J.; Thompson, A.; Regan, Regina; Regan, Regina; Pilorge, M.; Pilorge, M.; Pilorge, M.; Pellecchia, G.; Pagnamenta, A.; Oliveira, B.; Oliveira, B.; Marshall, C.; R. Magalhães, Tiago; R. Magalhães, Tiago; Lowe, J.; Howe, J.; Griswold, A.; Gilbert, J.; Duketis, E.; Dombroski, B.; Jonge, M.; Cuccaro, M.; L. Crawford, Emily; Correia, C.; Correia, C.; Conroy, J.; Conceição, I.; Conceição, I.; Chiocchetti, A.; Casey, J.; Casey, J.; Cai, Guiqing; Cabrol, C.; Cabrol, C.; Cabrol, C.; Bolshakova, N.; Bacchelli, E.; Anney, R.; Gallinger, S.; Cotterchio, M.; Casey, G.; Zwaigenbaum, L.; Wittemeyer, Kerstin; Wing, Kirsty; Wallace, S.; Engeland, H.; Tryfon, A.; A. Thomson, Susanne; Soorya, L.; Rogé, B.; Roberts, W.; Poustka, F.; Mouga, S.; Minshew, N.; A. McInnes, L.; McGrew, S.; Lord, C.; Leboyer, M.; Couteur, A.; Kolevzon, A.; J. González, P.; Jacob, Suma; Jacob, Suma; Holt, R.; J. Guter, Stephen; Green, Jonathan; Green, Andrew; Green, Andrew; Gillberg, C.; Fernandez, B.; Duque, F.; Delorme, R.; Dawson, G.; Chaste, Pauline; Café, C.; Brennan, Sean; Bourgeron, T.; Bolton, P.; Bolton, P.; Bölte, Sven; Bölte, Sven; Bernier, R.; Baird, G.; J. Bailey, Anthony; J. Bailey, Anthony; Anagnostou, E.; Almeida, J.; Wijsman, E.; Vieland, V.; Vicente, A.; Vicente, A.; Schellenberg, G.; Pericak-Vance, M.; Paterson, A.; Parr, J.; Oliveira, G.; Nurnberger, J.; P. Monaco, Anthony; P. Monaco, Anthony; Maestrini, E.; Klauck, S.; Hakonarson, H.; Haines, J.; Geschwind, D.; Freitag, C.; Folstein, S.; Ennis, S.; Ennis, S.; Coon, H.; Battaglia, A.; Szatmari, P.; Sutcliffe, J.; Hallmayer, Joachim; Gill, M.; Cook, E.; Buxbaum, J.; Devlin, B.; Gallagher, L.; Betancur, Catalina; Betancur, Catalina; Betancur, Catalina; Scherer, S.

doi:10.1016/j.ajhg.2014.03.018

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Shared by NobleBlocks on Mar 25, 2014 • 12:00 AM UTC

Authors:

D. Pinto

Elsa Delaby

Abstract

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10−5) and an increase in affected subjects...

Subject

Medicine

Biology

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