Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Nature

Volumn 485, Issue 7397, 2012, Pages 246-250

  O ’ Roak, Brian J ^a   Vives, Laura ^a   Girirajan, Santhosh ^a   Karakoc, Emre ^a   Krumm, Niklas ^a   Coe, Bradley P ^a   Levy, Roie ^a   Ko, Arthur ^a   Lee, Choli ^a   Smith, Joshua D ^a   Turner, Emily H ^a   Stanaway, Ian B ^a   Vernot, Benjamin ^a   Malig, Maika ^a   Baker, Carl ^a   Akey, Joshua M ^a   Borenstein, Elhanan ^a,b,c   Rieder, Mark J ^a   Nickerson, Deborah A ^a   Bernier, Raphael ^a   Shendure, Jay ^a   Eichler, Evan E ^a,d   more..

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

^b University of Washington   (United States)

^c SANTA FE INSTITUTE   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; CHD8 PROTEIN, HUMAN; DNA BINDING PROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LAMC3 PROTEIN, HUMAN; LAMININ; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; NERVE PROTEIN; NTNG1 PROTEIN, HUMAN; PROTEIN P53; SCN1A PROTEIN, HUMAN; SODIUM CHANNEL; SODIUM CHANNEL NAV1.1; TRANSCRIPTION FACTOR; CHROMATIN REMODELLING PROTEIN; LAMC3 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTISM; EXOME; EXON; GENETIC PREDISPOSITION; GENETICS; HUMAN; METABOLISM; PARENT; POINT MUTATION; PROTEIN PROTEIN INTERACTION; REPRODUCIBILITY; SIBLING; SIGNAL TRANSDUCTION; STATISTICS; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOME; HYPOTHESIS; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; PATERNAL AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

AUTISTIC DISORDER; BETA CATENIN; DNA-BINDING PROTEINS; EXOME; EXONS; GENETIC PREDISPOSITION TO DISEASE; GPI-LINKED PROTEINS; HUMANS; LAMININ; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; PARENTS; POINT MUTATION; PROTEIN INTERACTION MAPS; RECEPTORS, N-METHYL-D-ASPARTATE; REPRODUCIBILITY OF RESULTS; SIBLINGS; SIGNAL TRANSDUCTION; SODIUM CHANNELS; STOCHASTIC PROCESSES; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEIN P53;

CORRELATION; GENETIC ANALYSIS; GENOME; MENTAL HEALTH; MUTATION; NUMERICAL MODEL; PHENOTYPE; PROTEIN; RISK FACTOR;

EID: 84860741138     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature10989     Document Type: Article

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