ArticleNature medicine2023
Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.
Article in Nature medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2026Pooled it
- Gut virome dysbiosis contributes to premature ovarian insufficiency by modulating gut bacteriome.Gut microbes · 2026Article
- Early in, early out: reproductive lifespan timing and cardiometabolic risk in women.Journal of endocrinological investigation · 2026Review
- SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.Sexual medicine · 2026Article
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Human reproduction (Oxford, England) · 2026Article
- Low population penetrance of variants associated with inherited retinal degenerations.American journal of human genetics · 2026Article
- A novel heterozygous splicing variant in theFrontiers in cell and developmental biology · 2026Article
- Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.medRxiv : the preprint server for health sciences · 2025Article
- Synthesizing the latest guideline-based recommendations for the management of female hypogonadism.Archives of endocrinology and metabolism · 2025Review
- Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.Molecular biology reports · 2025Article
- A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- PEDF-Expressing mesenchymal stem cells restore ovarian function via Tim-3-Mediated immune modulation in primary ovarian failure.Journal of ovarian research · 2025Article
- Using large-scale population-based data to improve disease risk assessment of clinical variants.Nature genetics · 2025Review
- CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.Human genomics · 2025Article
- Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.JAMA network open · 2025Article
- From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- CommonGenome research · 2025Article
- Menstrual Blood-Derived Endometrial Stem Cells Ameliorate Ovarian Senescence by Relieving Oxidative Stress-Induced Inflammation.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
Abstract
Premature ovarian insufficiency (POI) affects 1% of women and is a leading cause of infertility. It is often considered to be a monogenic disorder, with pathogenic variants in ~100 genes described in the literature. We sought to systematically evaluate the penetrance of variants in these genes using exome sequence data in 104,733 women from the UK Biobank, 2,231 (1.14%) of whom reported at natural menopause under the age of 40 years. We found limited evidence to support any previously reported autosomal dominant effect. For nearly all heterozygous effects on previously reported POI genes, we ruled out even modest penetrance, with 99.9% (13,699 out of 13,708) of all protein-truncating variants found in reproductively healthy women. We found evidence of haploinsufficiency effects in several genes, including TWNK (1.54 years earlier menopause, P = 1.59 × 10
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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.