Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

Human Mutation

Volumn 33, Issue 5, 2012, Pages 874-883

  Boulding, Hannah ^a   Webber, Caleb ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

CNV; Copy number variation; Developmental disorders; Functional enrichment analysis; Mental retardation; Mouse models; Structural variation

Indexed keywords

ANIMAL GENETICS; ARTICLE; COMPLEX PARTIAL SEIZURE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC EPISTASIS; HUMAN; HUMAN GENETICS; LOW BIRTH WEIGHT; MAJOR CLINICAL STUDY; MALOCCLUSION; MENTAL DEFICIENCY; MOUSE; MOUSE STRAIN; NONHUMAN; ORTHOLOGY; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PSYCHOSIS; SYMPTOMATOLOGY; SYNDACTYLY; TRICUSPID VALVE REGURGITATION; ANIMAL; CONGENITAL DISORDER; DISEASE MODEL; GENETICS; GROWTH DISORDER;

MUS;

ANIMALS; CONGENITAL ABNORMALITIES; DISEASE MODELS, ANIMAL; DNA COPY NUMBER VARIATIONS; EPISTASIS, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC PLEIOTROPY; GROWTH DISORDERS; HUMANS; MICE; PHENOTYPE;

EID: 84864326947     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22069     Document Type: Article

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