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The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.

International journal of molecular sciences - 27 May 2024

Nóbrega Isabella de Sousa, Teles E Silva André Luíz, Yokota-Moreno Bruno Yukio, Sertié Andréa Laurato

Abstract excerpt

Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants...

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Autism Spectrum Disorder
Autistic Disorder
Genetic Predisposition to Disease
Genome-Wide Association Study
Genomics

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PMID: 38892002
DOI: 10.3390/ijms25115816
PMCID: PMC11172008

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