Article

A cell type-specific expression signature predicts haploinsufficient autism-susceptibility genes

2016-06-14

Abstract excerpt

Recent studies have identified many genes with rare de novo mutations in autism, but a limited number of these have been conclusively established as disease-susceptibility genes due to lack of recurrence and confounding background mutations. Such extreme genetic heterogeneity severely limits recurrence-based statistical power even in studies with a large sample size. In addition, the cellular contexts in which th...

Topics

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

Identifiers and source

Literature Corpus work: ffc3ce12-6ce8-5342-a848-6761041e3cd3
DOI: 10.1101/058826

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A cell type-specific expression signature predicts haploinsufficient autism-susceptibility genesDOI 10.1101/058826Read

A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes.Semantic proximity Read

Single cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss of function mutation genes regulating glial cellsSemantic proximity Read

Dissecting Autism Genetic Risk Using Single-cell RNA-seq DataSemantic proximity Read

Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.Semantic proximity Read

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

Expression weighted cell type enrichments reveal genetic and cellular nature of major brain disordersSemantic proximity Read

Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Semantic proximity Read

An integrative single-cell atlas to explore the cellular and temporal specificity of neurological disorder genes during human brain developmentSemantic proximity Read

Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seqSemantic proximity Read

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorderSemantic proximity Read

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of <i>CHD8</i> heterozygous cerebral organoidsSemantic proximity Read

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