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Annu Rev Genomics Hum Genet. 2014;15:195-213. doi: 10.1146/annurev-genom-090413-025600.

The diverse genetic landscape of neurodevelopmental disorders.

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Division of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email: , ,


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.


autism; brain malformations; neurodevelopment; somatic mutations

[Indexed for MEDLINE]

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