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Article

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

Genes - 25 Jul 2020

Yin Jiani, Chun Chun-An, Zavadenko Nikolay N, Pechatnikova Natalia L, Naumova Oxana Yu, Doddapaneni Harsha V, Hu Jianhong, Muzny Donna M, Schaaf Christian P, Grigorenko Elena L

Abstract excerpt

Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of...

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Source

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Identifiers

PMID: 32722525
DOI: 10.3390/genes11080853
PMCID: PMC7463850

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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