Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

Molecular Psychiatry

Volumn 19, Issue 8, 2014, Pages 872-879

  Kenny, E M ^a   Cormican, P ^a   Furlong, S ^a   Heron, E ^a   Kenny, G ^a   Fahey, C ^a   Kelleher, E ^a   Ennis, S ^b   Tropea, D ^a   Anney, R ^a   Corvin, A P ^a   Donohoe, G ^a   Gallagher, L ^a   Gill, M ^a   Morris, D W ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

autism; loss of function; mutation; schizophrenia; sequencing; synapse

Indexed keywords

N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; NERVE CELL ADHESION MOLECULE; NEUREXIN; NEUROLIGIN; CARRIER PROTEINS AND BINDING PROTEINS; GLUTAMATE RECEPTOR; NEUROLIGIN INTERACTING PROTEIN; POSTSYNAPTIC GLUTAMATE RECEPTOR COMPLEX; UNCLASSIFIED DRUG; NERVE PROTEIN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTISM; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SANGER SEQUENCING; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SYNAPSE; BRAIN FUNCTION; CELL ADHESION; COGNITION; DONOR SITE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; OPEN READING FRAME; PROTEIN PROTEIN INTERACTION; STOP CODON; CASE CONTROL STUDY; CAUCASIAN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION;

CASE-CONTROL STUDIES; CHILD DEVELOPMENT DISORDERS, PERVASIVE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; SCHIZOPHRENIA;

EID: 84905042733     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.127     Document Type: Article

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