Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature

Volumn 485, Issue 7397, 2012, Pages 242-246

  Neale, Benjamin M ^a,b   Kou, Yan ^c   Liu, Li ^d   Ma’ayan, Avi ^c   Samocha, Kaitlin E ^a,b   Sabo, Aniko ^e   Lin, Chiao Feng ^f   Stevens, Christine ^b   Wang, Li San ^f   Makarov, Vladimir ^c   Polak, Paz ^b,g   Yoon, Seungtai ^c   Maguire, Jared ^b   Crawford, Emily L ^h   Campbell, Nicholas G ^h   Geller, Evan T ^f   Valladares, Otto ^f   Schafer, Chad ^d   Liu, Han ⁱ   Zhao, Tuo ⁱ   Cai, Guiqing ^c   Lihm, Jayon ^c   Dannenfelser, Ruth ^c   Jabado, Omar ^c   Peralta, Zuleyma ^c   Nagaswamy, Uma ^e   Muzny, Donna ^e   Reid, Jeffrey G ^e   Newsham, Irene ^e   Wu, Yuanqing ^e   Lewis, Lora ^e   Han, Yi ^e   Voight, Benjamin F ^b,f   Lim, Elaine ^a,b   Rossin, Elizabeth ^a,b   Kirby, Andrew ^a,b   Flannick, Jason ^b   Fromer, Menachem ^a,b   Shakir, Khalid ^b   Fennell, Tim ^b   Garimella, Kiran ^b   Banks, Eric ^b   Poplin, Ryan ^b   Gabriel, Stacey ^b   Depristo, Mark ^b   Wimbish, Jack R ^j   Boone, Braden E ^j   Levy, Shawn E ^j   Betancur, Catalina ^k   Sunyaev, Shamil ^b,g   Boerwinkle, Eric ^e,l   Buxbaum, Joseph D ^c   Cook, Edwin H ^m   Devlin, Bernie ⁿ   Gibbs, Richard A ^e   Roeder, Kathryn ^d   Schellenberg, Gerard D ^f   Sutcliffe, James S ^h   Daly, Mark J ^a,b   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d CARNEGIE MELLON UNIVERSITY   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ Johns Hopkins University   (United States)

^j HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^k INSERM   (France)

^l UNIVERSITY OF TEXAS   (United States)

^m UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

ⁿ UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHD8 PROTEIN, HUMAN; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; AUTISM; BIOLOGICAL MODEL; CASE CONTROL STUDY; EXOME; EXON; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; HUMAN; MULTIFACTORIAL INHERITANCE; MUTATION; PHENOTYPE; POISSON DISTRIBUTION; PROTEIN PROTEIN INTERACTION; COPY NUMBER VARIATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; REVIEW;

AUTISTIC DISORDER; CASE-CONTROL STUDIES; DNA-BINDING PROTEINS; EXOME; EXONS; FAMILY HEALTH; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, GENETIC; MULTIFACTORIAL INHERITANCE; MUTATION; PHENOTYPE; POISSON DISTRIBUTION; PROTEIN INTERACTION MAPS; TRANSCRIPTION FACTORS;

GENETIC ANALYSIS; MENTAL HEALTH; MUTATION; NUMERICAL MODEL; PROTEIN; RISK FACTOR;

EID: 84860712363     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature11011     Document Type: Letter

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