Biblio
[Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021;38(5):439-445.
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
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.
Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.