The Diverse Genetic Landscape of Neurodevelopmental Disorders

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 cort...

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Bibliographic Details
Published in:Annual review of genomics and human genetics 2014-01, Vol.15 (1), p.195-213
Main Authors: Hu, Wen F, Chahrour, Maria H, Walsh, Christopher A
Format: Article
Language:English
Subjects:
Alleles
autism
brain malformations
Cerebral Cortex - growth & development
Cerebral Cortex - metabolism
Cerebral Cortex - pathology
Child
Child Development Disorders, Pervasive - genetics
Child Development Disorders, Pervasive - pathology
Cytoskeleton - genetics
Cytoskeleton - pathology
Developmental Disabilities - genetics
Developmental Disabilities - pathology
Fingers - abnormalities
Fingers - pathology
Humans
Intellectual Disability - genetics
Intellectual Disability - pathology
Malformations of Cortical Development - genetics
Malformations of Cortical Development - pathology
Microcephaly - genetics
Microcephaly - pathology
Muscle Hypotonia - genetics
Muscle Hypotonia - pathology
Myopia - genetics
Myopia - pathology
neurodevelopment
Neurons - metabolism
Neurons - pathology
Obesity - genetics
Obesity - pathology
somatic mutations
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Description
Summary: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.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev-genom-090413-025600