ArticleJournal of assisted reproduction and genetics2019
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2026Pooled it
- The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.Frontiers in endocrinology · 2023Pooled it
- Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation.Journal of cellular and molecular medicine · 2026Article
- Distinct post-insemination dynamics between fresh and frozen-derived gametes using testicular sperm.Journal of assisted reproduction and genetics · 2025Article
- A novel homozygous growth differentiation factor 9 variant associated with premature ovarian insufficiency: A case report.International journal of reproductive biomedicine · 2025Article
- A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Novel variants associated with premature ovarian insufficiency in Russian adolescents.Frontiers in endocrinology · 2025Article
- Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.Reproductive biology and endocrinology : RB&E · 2024Article
- Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.Reproductive biology and endocrinology : RB&E · 2024Article
- A Human HomozygousGenes · 2024Article
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- Polycomb repressive complex 1 modulates granulosa cell proliferation in early folliculogenesis to support female reproduction.Theranostics · 2024Article
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.Nature medicine · 2023Article
- Review
- Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023Review
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Landscape of pathogenic mutations in premature ovarian insufficiency.Nature medicine · 2023Article
- The Role ofJournal of clinical medicine · 2023Article
- Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2022Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
purposeTo investigate the potential genetic etiology of premature ovarian insufficiency (POI).
methodsWhole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according to the guidelines of the American College of Medical Genetics and Genomics. Plausible variants were confirmed by Sanger sequencing.
resultsFour of the 33 individuals (12%) carried pathogenic or likely pathogenic variants, and 6 individuals carried variants of unknown significance. The genes identified with pathogenic or likely pathogenic variants included PMM2, MCM9, and PSMC3IP.
conclusionsWES is an efficient tool for identifying gene variants in POI women; however, interpretation of variants is hampered by few exome studies involving ovarian disorders and the need for trio sequencing to determine inheritance and to detect de novo variants.
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