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Article

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.

American journal of human genetics - 5 Dec 2019

Turner Tychele N, Wilfert Amy B, Bakken Trygve E, Bernier Raphael A, Pepper Micah R, Zhang Zhancheng, Torene Rebecca I, Retterer Kyle, Eichler Evan E

Abstract excerpt

While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and identify 54 genes with a DNM enrichment in males (n = 18), females (n = 17), or overlapping in both the male and...

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Identifiers

PMID: 31785789
DOI: 10.1016/j.ajhg.2019.11.003
PMCID: PMC6904808

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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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