Recurrent de novo mutations implicate novel genes underlying simplex autism risk

Nature Communications

Volumn 5, Issue , 2014, Pages

  O'Roak, B J ^a,c   Stessman, H A ^a   Boyle, E A ^a   Witherspoon, K T ^a   Martin, B ^a   Lee, C ^a   Vives, L ^a   Baker, C ^a   Hiatt, J B ^a   Nickerson, D A ^a   Bernier, R ^a   Shendure, J ^a   Eichler, E E ^a,b  

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

^b UNIVERSITY OF WASHINGTON   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; CARRIER PROTEIN; CHD2 PROTEIN, HUMAN; DNA BINDING PROTEIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PAX5 PROTEIN, HUMAN; SYNGAP1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR PAX5; TRIP12 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

DISEASE INCIDENCE; ETIOLOGY; GENE EXPRESSION; GENETIC STRUCTURE; HEALTH RISK; MUTATION; NEUROLOGY;

ARTICLE; AUTISM; CHD2 GENE; COMORBIDITY; CONTROLLED STUDY; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; HETEROZYGOTE; HUMAN; INDEL MUTATION; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; PAX5 GENE; POINT MUTATION; PROTEIN STRUCTURE; RISK ASSESSMENT; SEIZURE; SIMULATION; SYNGAP1 GENE; TRIP12 GENE; DNA SEQUENCE; FAMILY; GENETIC PREDISPOSITION; GENETICS; INTELLIGENCE; INTELLIGENCE TEST; MUTATION; NUCLEOTIDE SEQUENCE; RISK;

AUTISTIC DISORDER; B-CELL-SPECIFIC ACTIVATOR PROTEIN; BASE SEQUENCE; CARRIER PROTEINS; DNA-BINDING PROTEINS; FAMILY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLIGENCE; INTELLIGENCE TESTS; MUTATION; RAS GTPASE-ACTIVATING PROTEINS; RISK; SEQUENCE ANALYSIS, DNA; UBIQUITIN-PROTEIN LIGASES;

EID: 84923328885     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms6595     Document Type: Article

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