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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Abstract Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurren...

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Main Authors: Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe, Evan E. Eichler
Format: Artigo
Language:Inglês
Published: BMC 2017-11-01
Series:Genome Medicine
Subjects:
Autism spectrum disorder
De novo mutations
Developmental disorders
Epilepsy
Intellectual disability
Neurodevelopmental disorders
Online Access:http://link.springer.com/article/10.1186/s13073-017-0498-x
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