KDM5A mutations identified in autism spectrum disorder using forward genetics.

doi:10.7554/eLife.56883

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Article

KDM5A mutations identified in autism spectrum disorder using forward genetics.

eLife - 22 Dec 2020

El Hayek Lauretta, Tuncay Islam Oguz, Nijem Nadine, Russell Jamie, Ludwig Sara, Kaur Kiran, Li Xiaohong, Anderton Priscilla, Tang Miao, Gerard Amanda, Heinze Anja, Zacher Pia, Alsaif Hessa S, Rad Aboulfazl, Hassanpour Kazem, Abbaszadegan Mohammad Reza, Washington Camerun, DuPont Barbara R, Louie Raymond J, Couse Madeline, Faden Maha, Rogers R Curtis, Abou Jamra Rami, Elias Ellen R, Maroofian Reza, Houlden Henry, Lehman Anna, Beutler Bruce, Chahrour Maria H

Abstract excerpt

Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with high phenotypic and genetic heterogeneity, complicating the discovery of causative genes. Through a forward genetics approach selecting for defective vocalization in mice, we identified Kdm5a as a candidate ASD gene. To validate our discovery, we generated a Kdm5a knockout mouse model (Kdm5a-/-) and confirmed that inactivating...

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Identifiers

PMID: 33350388
DOI: 10.7554/eLife.56883
PMCID: PMC7755391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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