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Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Nat Med. 2020 Jan;26(1):143-150. doi: 10.1038/s41591-019-0711-0. Epub 2019 Dec 23.
Nat Med. 2020.
PMID: 31873310
Free PMC article.
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG.
Ghosh SG, et al.
Eur J Hum Genet. 2021 Jun;29(6):957-964. doi: 10.1038/s41431-021-00832-x. Epub 2021 Apr 6.
Eur J Hum Genet. 2021.
PMID: 33824466
Free PMC article.
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