Biblio
Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia. Clin Genet. 2024.
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella. J Assist Reprod Genet. 2024.
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.
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.
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia. Hum Reprod. 2023.
. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice. Signal Transduct Target Ther. 2023;8(1):26.
. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
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