Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

doi:10.1038/s41591-019-0711-0

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Article

Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

Nature medicine - 1 Jan 2020

Breuss Martin W, Antaki Danny, George Renee D, Kleiber Morgan, James Kiely N, Ball Laurel L, Hong Oanh, Mitra Ileena, Yang Xiaoxu, Wirth Sara A, Gu Jing, Garcia Camila A B, Gujral Madhusudan, Brandler William M, Musaev Damir, Nguyen An, McEvoy-Venneri Jennifer, Knox Renatta, Sticca Evan, Botello Martha Cristina Cancino, Uribe Fenner Javiera, Pérez Maria Cárcel, Arranz Maria, Moffitt Andrea B, Wang Zihua, Hervás Amaia, Devinsky Orrin, Gymrek Melissa, Sebat Jonathan, Gleeson Joseph G

Abstract excerpt

De novo mutations arising on the paternal chromosome make the largest known contribution to autism risk, and correlate with paternal age at the time of conception. The recurrence risk for autism spectrum disorders is substantial, leading many families to decline future pregnancies, but the potential impact of assessing parental gonadal mosaicism has not been considered. We measured sperm mosaicism using...

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Identifiers

PMID: 31873310
DOI: 10.1038/s41591-019-0711-0
PMCID: PMC7032648

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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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