De novo mutations in regulatory elements in neurodevelopmental disorders

Nature

Volumn 555, Issue 7698, 2018, Pages 611-616

  Short, Patrick J ^a   McRae, Jeremy F ^a   Gallone, Giuseppe ^a   Sifrim, Alejandro ^a   Won, Hyejung ^b   Geschwind, Daniel H ^b,c   Wright, Caroline F ^a,d   Firth, Helen V ^a,e   Fitzpatrick, David R ^a,f   Barrett, Jeffrey C ^a   Hurles, Matthew E ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^e CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; TRANSCRIPTION FACTOR; UNTRANSLATED RNA;

BRAIN; GENETIC ANALYSIS; GENOME; HETEROGENEITY; MUTATION; NERVOUS SYSTEM; NERVOUS SYSTEM DISORDER; PATHOGEN;

ARTICLE; CLUSTER ANALYSIS; CONTROLLED STUDY; DISEASE BURDEN; EMBRYO; EVOLUTION; FEMALE; FETUS; GENE TARGETING; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPE; HUMAN; MALE; MENTAL DISEASE; MOUSE; MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN BINDING; BRAIN; CONSERVED SEQUENCE; DEVELOPMENTAL DISORDER; EXOME; GENETICS; METABOLISM; MOLECULAR EVOLUTION; REGULATORY SEQUENCE;

BRAIN; CONSERVED SEQUENCE; DEVELOPMENTAL DISABILITIES; EVOLUTION, MOLECULAR; EXOME; FEMALE; FETUS; HUMANS; MALE; MUTATION; NEURODEVELOPMENTAL DISORDERS; REGULATORY SEQUENCES, NUCLEIC ACID;

EID: 85044753058     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature25983     Document Type: Article

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