Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

PLoS Genetics

Volumn 8, Issue 4, 2012, Pages

  Chahrour, Maria H ^a,b,c   Yu, Timothy W ^a,b,c   Lim, Elaine T ^c,d,e   Ataman, Bulent ^b   Coulter, Michael E ^a   Hill, R Sean ^a   Stevens, Christine R ^c   Schubert, Christian R ^a,b,c   Greenberg, Michael E ^b   Gabriel, Stacey B ^c   Walsh, Christopher A ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

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

^d HARVARD UNIVERSITY   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; CLATHRIN HEAVY CHAIN; CLTCL1 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NCK PROTEIN; ONCOPROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UBE3B PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE; ZNF18 PROTEIN, HUMAN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTISM; CLTCL1 GENE; EMBRYO; EXOME; GENE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE FUNCTION; GENE OVEREXPRESSION; GENE SEGREGATION; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NCKAP5L GENE; NERVE CELL MEMBRANE STEADY POTENTIAL; NERVE CELL PLASTICITY; NONHUMAN; PATHOGENESIS; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; TRANSCRIPTION REGULATION; UBE3B GENE; ZNF18 GENE; EXON; GENETIC TRANSCRIPTION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN GENOME; METABOLISM; MUTATION; NERVE CELL; PHYSIOLOGY; RECESSIVE GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AUTISTIC DISORDER; CLATHRIN HEAVY CHAINS; EXONS; GENES, RECESSIVE; GENOME, HUMAN; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MUTATION; NEURONS; ONCOGENE PROTEINS; TRANSCRIPTION, GENETIC; UBIQUITIN-PROTEIN LIGASES;

EID: 84860564877     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002635     Document Type: Article

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