Article

Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genes

2019-09-11

Abstract excerpt

<h4>ABSTRACT</h4> Autism Spectrum Disorders (ASDs) are a heterogeneous collection of neurodevelopmental disorders with a strong genetic basis. Recent studies identified that a single hit of either a de novo or transmitted gene-disrupting, or likely gene-disrupting, mutation in a subset of 65 strongly associated genes can be sufficient to generate an ASD phenotype. We took advantage of consanguineous families wit...

Topics

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

Identifiers and source

Literature Corpus work: 9bf40d72-46c1-5e66-901c-b2a202a47305
DOI: 10.1101/759480

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Multi-hit autism genomic architecture evidenced from consanguineous families with involvement of FEZF2 and mutations in high-risk genesDOI 10.1101/759480Read

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.Semantic proximity Read

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autismSemantic proximity Read

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

Autism genetics perturb prenatal neurodevelopment through a hierarchy of broadly-expressed and brain-specific genesSemantic proximity Read

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 CNV Mediated Risk for Neuropsychiatric DisordersSemantic proximity Read

Enhancer-driven gene regulatory network of forebrain human development provides insights into autismSemantic proximity Read

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Semantic proximity Read

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.Semantic proximity Read

Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions.Semantic proximity Read

Non-coding Regulatory Variants in ASD (Autism Spectrum Disorders) Disrupt CTCF Domains and Shape Cell-Type–Specific Neurodevelopmental Landscapes Revealed by Single-Cell Analyses and Cortical OrganoidsSemantic proximity Read

De Novo Variation in Autism by Sex and Diagnostic Status in 41,367 Parent-Child TriosSemantic proximity Read

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.Semantic proximity Read