Article

<i>De Novo</i> Mutation in an Enhancer of <i>EBF3</i> in simplex autism

2020-08-28

Abstract excerpt

Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of de novo protein-coding variants within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing data in 2,671 families with au...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 22e78e08-c300-51e1-8f44-90aa8b89416c
DOI: 10.1101/2020.08.28.270751

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>De Novo</i> Mutation in an Enhancer of <i>EBF3</i> in simplex autismDOI 10.1101/2020.08.28.270751Read

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.Semantic proximity Read

Noncoding <i>de novo</i> mutations contribute to autism spectrum disorder via chromatin interactionsSemantic proximity Read

<i>De novo</i> mutations in regulatory elements cause neurodevelopmental disordersSemantic proximity Read

Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disordersSemantic proximity Read

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.Semantic proximity Read

Genomic Patterns of De Novo Mutation in Simplex Autism.Semantic proximity Read

Regulatory de novo mutations underlying intellectual disability.Semantic proximity Read

Regulatory<i>de novo</i>mutations underlying intellectual disabilitySemantic proximity Read

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.Semantic proximity Read

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Semantic proximity Read

Challenges in screening for <i>de novo</i> noncoding variants contributing to genetically complex phenotypesSemantic proximity Read

Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder.Semantic proximity Read