Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Science

Volumn 362, Issue 6420, 2018, Pages

  An, Joon Yong ^a   Lin, Kevin ^b   Zhu, Lingxue ^b   Werling, Donna M ^a   Dong, Shan ^a   Brand, Harrison ^c,d,e   Wang, Harold Z ^c   Zhao, Xuefang ^c,d,e   Schwartz, Grace B ^a   Collins, Ryan L ^c,d   Currall, Benjamin B ^c,d,e   Dastmalchi, Claudia ^a   Dea, Jeanselle ^a   Duhn, Clif ^a   Gilson, Michael C ^a   Klei, Lambertus ^f   Liang, Lindsay ^a   Markenscoff Papadimitriou, Eirene ^a   Pochareddy, Sirisha ^g   Ahituv, Nadav ^a   Buxbaum, Joseph D ^h   Coon, Hilary ⁱ   Daly, Mark J ^c,d,e   Kim, Young Shin ^a   Marth, Gabor T ⁱ   Neale, Benjamin M ^c,d,e   Quinlan, Aaron R ⁱ   Rubenstein, John L ^a   Sestan, Nenad ^g   State, Matthew W ^a   Willsey, A Jeremy ^a,j   Talkowski, Michael E ^c,d,e   Devlin, Bernie ^f   Roeder, Kathryn ^b,k   Sanders, Stephan J ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CARNEGIE MELLON UNIVERSITY   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

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

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^g YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h MOUNT SINAI SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k NONE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

AUTISM; GENOME; MUTATION; PROTEIN; RNA; SIBLING;

ARTICLE; AUTISM; BINDING SITE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE FUNCTION; GENE IDENTIFICATION; GENE ISOLATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC CORRELATION; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; WHOLE GENOME SEQUENCING; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MUTATION; PEDIGREE; RISK;

AUTISM SPECTRUM DISORDER; BINDING SITES; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC LOCI; GENETIC VARIATION; HUMANS; MUTATION; PEDIGREE; PROMOTER REGIONS, GENETIC; RISK; TRANSCRIPTION FACTORS;

EID: 85058393027     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aat6576     Document Type: Article

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