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.
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.
Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice. Front Med. 2023.
Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.