| Title: |
Functional impact of global rare copy number variation in autism spectrum disorders |
| Authors: |
Pinto, D; Pagnamenta, AT; Klei, L; Anney, R; Merico, D; Regan, R; Conroy, J; Magalhaes, TR; Correia, C; Abrahams, BS; Almeida, J; Bacchelli, E; Bader, GD; Bailey, AJ; Baird, G; Battaglia, A; Berney, T; Bolshakova, N; Bölte, S; Bolton, PF; Bourgeron, T; Brennan, S; Brian, J; Bryson, SE; Carson, AR; Casallo, G; Casey, J; Chung, BHY; Cochrane, L; Corsello, C; Crawford, EL; Crossett, A; Cytrynbaum, C; Dawson, G; De Jonge, M; Delorme, R; Drmic, I; Duketis, E; Duque, F; Estes, A; Farrar, P; Fernandez, BA; Folstein, SE; Fombonne, E; Freitag, CM; Gilbert, J; Gillberg, C; Glessner, JT; Goldberg, J; Green, A; Green, J; Guter, SJ; Hakonarson, H; Heron, EA; Hill, M; Holt, R; Howe, JL; Hughes, G; Hus, V; Igliozzi, R; Kim, C; Klauck, SM; Kolevzon, A; Korvatska, O; Kustanovich, V; Lajonchere, CM; Lamb, JA; Laskawiec, M; Leboyer, M; Le Couteur, A; Leventhal, BL; Lionel, AC; Liu, XQ; Lord, C; Lotspeich, L; Lund, SC; Maestrini, E; Mahoney, W; Mantoulan, C; Marshall, CR; Mcconachie, H; Mcdougle, CJ; Mcgrath, J; Mcmahon, WM; Merikangas, A; Migita, O; Minshew, NJ; Mirza, GK; Munson, J; Nelson, SF; Noakes, C; Noor, A; Nygren, G; Oliveira, G; Papanikolaou, K; Parr, JR; Parrini, B; Paton, T; Pickles, A; Pilorge, M; Piven, J; Ponting, CP; Posey, DJ; Poustka, A; Poustka, F; Prasad, A; Ragoussis, J; Renshaw, K; Rickaby, J; Roberts, W; Roeder, K; Roge, B; Rutter, ML; Bierut, LJ; Rice, JP; Salt, J; Sansom, K; Sato, D; Segurado, R; Sequeira, AF; Senman, L; Shah, N; Sheffield, VC; Soorya, L; Sousa, I; Stein, O; Sykes, N; Stoppioni, V; Strawbridge, C; Tancredi, R; Tansey, K; Thiruvahindrapduram, B; Thompson, AP; Thomson, S; Tryfon, A; Tsiantis, J; Van Engeland, H; Vincent, JB; Volkmar, F; Wallace, S; Wang, K; Wang, Z; Wassink, TH; Webber, C; Weksberg, R; Wing, K; Wittemeyer, K; Wood, S; Wu, J; Yaspan, BL; Zurawiecki, D; Zwaigenbaum, L; Buxbaum, JD; Cantor, RM; Cook, EH; Coon, H; Cuccaro, ML; Devlin, B; Ennis, S; Gallagher, L; Geschwind, DH; Gill, M; Haines, JL; Hallmayer, J; Miller, J; Monaco, AP; Nurnberger Jr, JI; Paterson, AD; PericakVance, MA; Schellenberg, GD; Szatmari, P; Vicente, AM; Vieland, VJ; Wijsman, EM; Scherer, SW; Sutcliffe, JS; Betancur, C |
| Publisher Information: |
//www.nature.com/nature; United Kingdom |
| Publication Year: |
2010 |
| Collection: |
University of Hong Kong: HKU Scholars Hub |
| Subject Terms: |
Case-Control Studies; Cell Movement; Child; Child Development Disorders; Pervasive - Genetics - Pathology - Physiopathology; Cytoprotection; Dna Copy Number Variations - Genetics; Europe - Ethnology; Gene Dosage - Genetics; Genetic Predisposition To Disease - Genetics; Genome-Wide Association Study; Humans; Signal Transduction; Social Behavior |
| Description: |
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours 1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability 2. Although ASDs are known to be highly heritable ( ∼90%) 3, the underlying genetic determinants are still largely unknown.Hereweanalysed the genome-wide characteristics of rare ( |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
Nature; http://www.scopus.com/mlt/select.url?eid=2-s2.0-77954657070&selection=ref&src=s&origin=recordpage; 7285777; 372; 3862963; 170852; WOS:000279867100049; 7304; PMC3021798; 368; https://hub.hku.hk/handle/10722/170439; 466 |
| DOI: |
10.1038/nature09146 |
| Availability: |
https://hub.hku.hk/handle/10722/170439; https://doi.org/10.1038/nature09146 |
| Accession Number: |
edsbas.A2668165 |
| Database: |
BASE |