ArticleFrontiers in endocrinology2020
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.
Article in Frontiers in endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Human genomics · 2026Pooled it
- Article
- Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.Human genetics · 2025Article
- Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.Molecular genetics and genomics : MGG · 2025Article
- Genetic parameters and genome-wide association studies including the X chromosome for various reproduction and semen quality traits in Nellore cattle.BMC genomics · 2025Article
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Article
- The Renaissance of Male Infertility Management in the Golden Age of Andrology.The world journal of men's health · 2023Review
- Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.Human genetics · 2023Article
- Genetic control of meiosis surveillance mechanisms in mammals.Frontiers in cell and developmental biology · 2023Review
- Prokineticin 2/PROK2 and Male Infertility.Biomedicines · 2022Review
- Regenerative medicine for male infertility: A focus on stem cell niche injury models.Biomedical journal · 2022Review
- In Silico Identification of lncRNAs Regulating Sperm Motility in the Turkey (International journal of molecular sciences · 2022Article
- MicroRNA-targeting in male infertility: Sperm microRNA-19a/b-3p and its spermatogenesis related transcripts content in men with oligoasthenozoospermia.Frontiers in cell and developmental biology · 2022Article
- Translational aspects of novel findings in genetics of male infertility-status quo 2021.British medical bulletin · 2021Review
- Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?Basic and clinical andrology · 2021Article
- Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility.Reproductive medicine and biologyArticle
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Infertility affects about 7% of the general male population. The underlying cause of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of genes involved in human spermatogenesis is over two thousand. Therefore, it is essential to analyze a large number of genes that may be involved in male infertility. This study aimed to test idiopathic male infertile patients negative for a validated panel of "diagnostic" genes, for a wide panel of genes that we have defined as "pre-diagnostic." Methods: We developed a next-generation sequencing (NGS) gene panel including 65 pre-diagnostic genes that were used in 12 patients who were negative to a diagnostic genetic test for male infertility disorders, including primary spermatogenic failure and central hypogonadism, consisting of 110 genes. Results: After NGS sequencing, variants in pre-diagnostic genes were identified in 10/12 patients who were negative to a diagnostic test for primary spermatogenic failure (n = 9) or central hypogonadism (n = 1) due to mutations of single genes. Two pathogenic variants of Conclusion: This study suggests that searching for pre-diagnostic genes may be of relevance to find the cause of infertility in patients with apparently idiopathic primary spermatogenic failure due to mutations of single genes and central hypogonadism.
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