Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia due to acrosomal hypoplasia and reduced progressive motility. Hum Mol Genet. 2023.
Biallelic mutations in cause male infertility with severe MMAF and NOA. J Med Genet. 2023.
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.