Biblio
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.
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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. Am J Hum Genet. 2021.
Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
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.
. Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet. 2024.
The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes. Mol Cytogenet. 2014;7(1):64.
. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype. Clin Genet. 2022.
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.
A novel loss-of-function variant in inducing oligo-astheno-teratozoospermia and male infertility. Asian J Androl. 2023.
. Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.