title: The diverse genetic landscape of neurodevelopmental disorders.
abstract: 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.
authors.affiliation: 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: wenfanhu@hms.harvard.edu , maria.chahrour@childrens.harvard.edu , christopher.walsh@childrens.harvard.edu.
authors.forename: Wen F
authors.initials: WF
authors.lastname: Hu
authors.forename: Maria H
authors.initials: MH
authors.lastname: Chahrour
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000483:Alleles; D002540:Cerebral Cortex / Q000254:growth & development / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000473:pathology; D003599:Cytoskeleton / Q000235:genetics / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005385:Fingers / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology; D009216:Myopia / Q000235:genetics / Q000473:pathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology*; D009765:Obesity / Q000235:genetics / Q000473:pathology; D012162:Retinal Degeneration
keywords: autism; brain malformations; neurodevelopment; somatic mutations