Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Is the TEX11-.652del237bp Exonic In-Frame Deletion Variant Associated with Azoospermia? The Results of an In Vitro and In Silico Study.
Le Beulze M et al.
Genes, 2025
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.
Podgrajsek R et al.
The World Journal of Men's Health, 2025
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP.
Khan MR et al.
Andrology, 2025
Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.
Oud MS et al.
Andrology, 2025
39180390 (PubMed )
Supplement: ANDR-13-1078-s002.xlsx › Table_SI
Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.
Rotte N et al.
Embo Molecular Medicine, 2025
40374915 (PubMed )
Supplement: 44321_2025_244_MOESM13_ESM.pdf
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Riera-Escamilla A et al.
Human Reproduction Open, 2025
40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST4
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human 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 variants underlying spermatogenic arrests in men with non-obstructive azoospermia.
Ozturk S
Cell Cycle (georgetown, Tex.), 2023
Genetic control of meiosis surveillance mechanisms in mammals.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
36910159 (PubMed )
Supplement: DataSheet2.PDF
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
Wyrwoll MJ et al.
American Journal of Human Genetics, 2020
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