Biblio
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.
Novel homozygous variants in cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella. Front Cell Dev Biol. 2023;11:1184331.
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype. Clin Genet. 2022.
Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. HGG Adv. 2023:100256.
Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella. J Assist Reprod Genet. 2024.
A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia. Clin Genet. 2024.
Fut2 Deficiency Promotes Intestinal Stem Cell Aging by Damaging Mitochondrial Functions via Down-Regulating α1,2-Fucosylation of Asah2 and Npc1. Research (Wash D C). 2024;7:0343.
. Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia. Hum Reprod. 2023.