Associated Papers
Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.
Veitia RA et al.
Human Reproduction (oxford, England), 2025
Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.
Mazza F et al.
Journal of Chemical Information and Modeling, 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
The role of RAD51 regulators and variants in primary ovarian insufficiency, endometriosis, and polycystic ovary syndrome.
Witham M et al.
Nar Molecular Medicine, 2024
RAD51 and Infertility: A Review and Case-Control Study.
Sahota JS et al.
Biochemical Genetics, 2024
In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.
Ding X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetic control of meiosis surveillance mechanisms in mammals.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome.
Murtaza G et al.
Genetic Testing and Molecular Biomarkers, 2021
A pathogenic DMC1 frameshift mutation causes nonobstructive azoospermia but not primary ovarian insufficiency in humans.
Cao D et al.
Molecular Human Reproduction, 2021
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
Eskenazi S et al.
Journal of the Endocrine Society, 2021
Meiotic Recombination Defects and Premature Ovarian Insufficiency.
Huang C et al.
Frontiers in Cell and Developmental Biology, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.
Tran TN et al.
Human Molecular Genetics, 2018
DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.
He WB et al.
Journal of Medical Genetics, 2018
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
Bouilly J et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure.
Su S et al.
Reproductive Biomedicine Online, 2016
Genes involved in human premature ovarian failure.
Persani L et al.
Journal of Molecular Endocrinology, 2010
Biochemical analysis of the human DMC1-I37N polymorphism.
Hikiba J et al.
The Febs Journal, 2009
Structural and functional analyses of the DMC1-M200V polymorphism found in the human population.
Hikiba J et al.
Nucleic Acids Research, 2008
Genetic investigation of four meiotic genes in women with premature ovarian failure.
Mandon-Pépin B et al.
European Journal of Endocrinology, 2008