The contribution of de novo coding mutations to autism spectrum disorder

Nature

Volumn 515, Issue 7526, 2014, Pages 216-221

  Iossifov, Ivan ^a   O'Roak, Brian J ^b,c   Sanders, Stephan J ^d,e   Ronemus, Michael ^a   Krumm, Niklas ^b   Levy, Dan ^a   Stessman, Holly A ^b   Witherspoon, Kali T ^b   Vives, Laura ^b   Patterson, Karynne E ^b   Smith, Joshua D ^b   Paeper, Bryan ^b   Nickerson, Deborah A ^b   Dea, Jeanselle ^d   Dong, Shan ^e,f   Gonzalez, Luis E ^g   Mandell, Jeffrey D ^d   Mane, Shrikant M ^e   Murtha, Michael T ^g   Sullivan, Catherine A ^g   Walker, Michael F ^d   Waqar, Zainulabedin ^g   Wei, Liping ^f,h   Willsey, A Jeremy ^d,e   Yamrom, Boris ^a   Lee, Yoon Ha ^a   Grabowska, Ewa ^a,i   Dalkic, Ertugrul ^a,j   Wang, Zihua ^a   Marks, Steven ^a   Andrews, Peter ^a   Leotta, Anthony ^a   Kendall, Jude ^a   Hakker, Inessa ^a   Rosenbaum, Julie ^a   Ma, Beicong ^a   Rodgers, Linda ^a   Troge, Jennifer ^a   Narzisi, Giuseppe ^a,i   Yoon, Seungtai ^a   Schatz, Michael C ^a   Ye, Kenny ^k   McCombie, W Richard ^a   Shendure, Jay ^b   Eichler, Evan E ^b,l   State, Matthew W ^d,e,g   Wigler, Michael ^a   more..

^a Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f PEKING UNIVERSITY   (China)

^g YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h NATIONAL INSTITUTE OF BIOLOGICAL SCIENCES   (China)

ⁱ NEW YORK GENOME CENTER   (United States)

^j ZONGULDAK KARAELMAS UNIVERSITY   (Turkey)

^k ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DISABILITY; GENE EXPRESSION; MEDICAL GEOGRAPHY; MUTATION;

ADULT; ALLELE; ARTICLE; AUTISM; CHILDHOOD DISEASE; CHROMATIN; CLUSTER ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; EXOME; FAMILY COUNSELING; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; GENE NUMBER; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; GENETIC CODE; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LIKELY GENE DISRUPTING; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; SCHIZOPHRENIA; SIBLING; VALIDATION STUDY; WILD TYPE; CHILD; GENE; GENETIC PREDISPOSITION; GENETICS; INTELLIGENCE TEST; MUTATION; OPEN READING FRAME; REPRODUCIBILITY;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CLUSTER ANALYSIS; EXOME; FEMALE; GENES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLIGENCE TESTS; MALE; MUTATION; OPEN READING FRAMES; REPRODUCIBILITY OF RESULTS;

EID: 84912101541     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature13908     Document Type: Article

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