ArticleAmerican journal of human genetics2018
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
67 citing papers in PubMed, 129 citations in OpenAlex.
- Novel IFT140 variants cause spermatogenic dysfunction in humans.Molecular genetics & genomic medicine · 2019Trial
- Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Head and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.Cancers · 2025Review
- Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years.Andrology · 2025Review
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.Frontiers in endocrinology · 2025Review
- PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.Genetic epidemiology · 2025Article
- Significantly increased load of hereditary cancer-linked germline variants in infertile men.Human reproduction open · 2025Article
- FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma.Genes · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- The effect of red blood cell disorders on male fertility and reproductive health.Nature reviews. Urology · 2024Review
- Article
- Frequency, morbidity and equity - the case for increased research on male fertility.Nature reviews. Urology · 2024Review
- Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia.Frontiers in endocrinology · 2024Review
- A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2023Article
- Article
- A pathogenic variant in the uncharacterizedHGG advances · 2023Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 5 countries.
Funding
Abstract
Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia (NOA) is defined as the absence of spermatozoa in the ejaculate due to failed spermatogenesis. There is a high probability that NOA is caused by rare genetic defects. In this study, whole-exome sequencing (WES) was applied to two Estonian brothers diagnosed with NOA and Sertoli cell-only syndrome (SCOS). Compound heterozygous loss-of-function (LoF) variants in FANCM (Fanconi anemia complementation group M) were detected as the most likely cause for their condition. A rare maternally inherited frameshift variant p.Gln498Thrfs
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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.