ArticleNature communications2022
Diverse monogenic subforms of human spermatogenic failure.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Genetic and genomic insights into male reproductive tract development.Fertility and sterility · 2025Pooled it
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- A Western-style diet exacerbates male infertility in M1ap knockout mice.Human reproduction (Oxford, England) · 2026Article
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- Review
- CRISPR/Cas9-mediated genome editing identifies six testis-expressed genes individually dispensable for overt male fecundity in mice.Journal of biomedical research · 2026Article
- Molecular genetics of meiotic initiation in mammals.Biology of reproduction · 2026Article
- A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility.Human reproduction (Oxford, England) · 2026Article
- Mapping whole-organism genetic comorbidities across model Species using unified ontologies.Genetics · 2026Article
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- Development and validation of a nomogram for predicting sperm retrieval success in patients with non-obstructive azoospermia undergoing testicular sperm aspiration.Translational andrology and urology · 2026Article
- Changes in circulating small non-coding RNAs after castration in a cohort of prostate cancer patients.Scientific reports · 2026Article
- Mutation Severity ofHuman mutation · 2026Article
- Whole genome sequencing approach for the detection of rare protein-altering variants associated with familial male infertility.The Egyptian journal of medical human genetics · 2025Article
- A comparison of spermatogenesis between flies and men-conserved processes of male gamete production.Human reproduction update · 2025Review
- Identification of missense DMC1 variants in males with non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- POU4F2/Brn-3b is Essential for Spermatogenesis and its Disruption is Linked to Male Infertility in Mice and Humans.Research square · 2025Article
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.The world journal of men's health · 2025Article
- Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.Molecular genetics and genomics : MGG · 2025Article
Corrections and comments
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Authors and funding
49 authors at 20 institutions in 13 countries.
Funding
Abstract
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are primarily on the autosomes, enriched for undescribed human "knockouts", and, for the most part, have yet to be linked to a Mendelian trait. Integration with single-cell RNA sequencing data shows that azoospermia genes can be grouped into molecular subforms with synchronized expression patterns, and analogs of these subforms exist in mice. This analysis framework identifies groups of genes with known roles in spermatogenesis but also reveals unrecognized subforms, such as a set of genes expressed across mitotic divisions of differentiating spermatogonia. Our findings highlight NOA as an understudied Mendelian disorder and provide a conceptual structure for organizing the complex genetics of male infertility, which may provide a rational basis for disease classification.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.