A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Molecular Psychiatry

Volumn 18, Issue 2, 2013, Pages 141-153

  Ku, C S ^a   Polychronakos, C ^b   Tan, E K ^a,c   Naidoo, N ^a   Pawitan, Y ^d   Roukos, D H ^e,f   Mort, M ^g   Cooper, D N ^g  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY OF IOANNINA   (Greece)

^f UNIVERSITY OF IOANNINA   (Greece)

^g CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

de novo mutation; exome sequencing; Mendelian disorders; neurodevelopmental disease; next generation sequencing

Indexed keywords

AUTISM; BOHRING OPITZ SYNDROME; DNA SEQUENCE; EXOME; EXON; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; MENTAL DEFICIENCY; MENTAL DISEASE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SCHINZEL GIEDION SYNDROME; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

DEVELOPMENTAL DISABILITIES; EXOME; GENOTYPE; HUMANS; MENTAL DISORDERS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84873056526     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2012.58     Document Type: Review

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