ArticleAndrology2022
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Article in Andrology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Human genomics · 2026Pooled it
- Review
- A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.Asian journal of andrology · 2026Article
- Whole-Genome Sequencing Identifies Potentially Causative Variants inInternational journal of molecular sciences · 2026Article
- Identification of novel variants in SSX1, CPNE1, and SPTBN5 in men with oligoasthenoteratozoospermia using whole-genome sequencing.Journal of applied genetics · 2026Article
- Y-CpG-based semen age prediction: analysis of vasectomized samples and development of an optimized multiplex assay evaluated in independent and mixed samples.International journal of legal medicine · 2026Article
- Multi-omic screening identifies RBMXL3 as a primate-specific RNA-binding protein and candidate regulator of RNA metabolism in human spermatogenesis.Cellular & molecular biology letters · 2026Article
- The RNA helicase DDX53 (CAGE) contributes to RNA metabolism in a human germ cell model.bioRxiv : the preprint server for biology · 2026Article
- Genetic alterations in poor-quality individually selected sperm highlight candidate biomarkers for male subfertility.Scientific reports · 2026Article
- Cytogenetic, genomic, and reproductive characterization of four Pura Raza Española Mares carrying a 64, X, del(X), t(X; Y) complex karyotype.Journal of animal science · 2026Article
- Novel biallelic MEI1 variants cause female infertility characterized by multiple pronuclei formation and aberrant embryonic development.Journal of ovarian research · 2025Article
- Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.Molecular genetics and genomics : MGG · 2025Article
- TKTL1: a new candidate gene in non-obstructive azoospermia.Reproductive biomedicine online · 2025Article
- Article
- Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Review
- Deletion of an evolutionarily conserved TAD boundary impacts spermatogenesis in mice†.Biology of reproduction · 2025Article
- Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.American journal of human genetics · 2025Article
- Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.Molecular genetics and genomics : MGG · 2024Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established.
objectiveTo identify low-frequency NOA-associated single nucleotide variants (SNVs) using whole-genome sequencing (WGS). MATERIALS AND
methodsMen with various types of NOA (n = 39), including samples that had been previously tested with whole-exome sequencing (WES; n = 6) and did not result in diagnostic conclusions. Variants were annotated using the Ensembl Variant Effect Predictor, utilizing frequencies from GnomAD and other databases to provide clinically relevant information (ClinVar), conservation scores (phyloP), and effect predictions (i.e., MutationTaster). Structural protein modeling was also performed.
resultsUsing WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM50B (genes previously known to be associated with infertility) and ALG13, BEND2, BRWD3, DDX53, TAF4, FAM47B, FAM9B, FAM9C, MAGEB6, MAP3K15, RBMXL3, SSX3 and FMR1NB genes, which may be involved in spermatogenesis. DISCUSSION AND
conclusionIn this study, we identified novel potential candidate NOA-associated genes in 29 individuals out of 39 azoospermic males. Note that in 5 out of 6 patients subjected previously to WES analysis, which did not disclose potentially causative variants, the WGS analysis was successful with NOA-associated gene findings.
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