期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15
卷 15, 期 -, 页码 195-213出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-090413-025600
关键词
neurodevelopment; brain malformations; somatic mutations; autism
资金
- Howard Hughes Medical Institute Funding Source: Medline
- NIGMS NIH HHS [T32 GM007753, T32GM007753] Funding Source: Medline
- NIMH NIH HHS [1RC2MH089952, R01MH083565] Funding Source: Medline
- NINDS NIH HHS [F31NS083111, R01NS35129, R01NS079277, R01NS032457] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM007753] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH083565, RC2MH089952] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS032457, R01NS079277, R01NS035129, F31NS083111] Funding Source: NIH RePORTER
Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.
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