Prioritization of neurodevelopmental disease genes by discovery of new mutations

Nature Neuroscience

Volumn 17, Issue 6, 2014, Pages 764-772

  Hoischen, Alexander ^a   Krumm, Niklas ^b   Eichler, Evan E ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; BRAIN DISEASE; CHROMOSOME TRANSLOCATION; DEVELOPMENTAL DISORDER; EPILEPSY; EXOME; GENE MUTATION; GENE PRIORITIZATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC PROCEDURES; GENETIC SCREENING; HAJDU CHENEY SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MUTATION RATE; NEURODEVELOPMENTAL DISEASE; NEUROLOGIC DISEASE; NONSENSE MEDIATED MRNA DECAY; OVERLAPPING GENE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; SCHIZOPHRENIA; SPEECH DELAY;

EXOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 84901617965     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.3703     Document Type: Review

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