Biblio
A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination. Hum Reprod. 2024.
. Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia. Mol Hum Reprod. 2024.
Extended application of PGT-M strategies for small pathogenic CNVs. J Assist Reprod Genet. 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.
. 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.
Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192. HGG Adv. 2023:100256.
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.
. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
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The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes. Mol Cytogenet. 2014;7(1):64.
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