Article

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

2021-01-01

Abstract excerpt

<h4>Summary</h4> Individuals with autism spectrum disorders (ASD) exhibit an increased burden of de novo variants in a broadening range of genes. We functionally tested the effects of ASD missense variants using Drosophila through ‘humanization’ rescue and overexpression-based strategies. We studied 79 ASD variants in 74 genes identified in the Simons Simplex Collection and found 38% of them caused functional a...

Topics

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

Identifiers and source

Literature Corpus work: f1594ea7-87db-53c8-9455-63a38beff5c7
DOI: 10.1101/2020.12.30.424813

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseasesDOI 10.1101/2020.12.30.424813Read

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.Semantic proximity Read

Resolution ofSLC6A1variable expressivity in a multi-generational family using deep clinical phenotyping andDrosophilamodelsSemantic proximity Read

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Semantic proximity Read

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

In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with Autism risk genesSemantic proximity Read

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

Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorderSemantic proximity Read

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and DrosophilaSemantic proximity Read

Whole genome sequencing in multiplex families reveals novel inherited and de novo genetic risk in autismSemantic proximity Read

Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Semantic proximity Read

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.Semantic proximity Read

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

<i>Drosophila</i> functional screening of <i>de novo</i> variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Abstract excerpt

Topics

Identifiers and source

Related research