ArticleJournal of medical genetics2021
Homozygous variants in
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Cracking the fertility code: a comprehensive review of biomarkers and functional measures.Open biology · 2026Review
- Emerging roles of mJournal of assisted reproduction and genetics · 2026Review
- The synaptonemal complex: structure, function, and clinical implications†.Biology of reproduction · 2026Article
- A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.Journal of assisted reproduction and genetics · 2026Article
- Human Papillomavirus-Encoded microRNAs as Regulators of Human Gene Expression in Anal Squamous Cell Carcinoma: A Meta-Transcriptomics Study.Non-coding RNA · 2025Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Novel Loss-of-FunctionGenes · 2024Article
- A Human HomozygousGenes · 2024Article
- Bi-allelic variants inHuman reproduction open · 2024Article
- 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
- A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.Molecular genetics & genomic medicine · 2022Article
- Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.JCI insight · 2022Article
- Genome-Wide Association Study Identifies Candidate Genes Associated with Feet and Leg Conformation Traits in Chinese Holstein Cattle.Animals : an open access journal from MDPI · 2021Article
- Article
- TMEM150B is dispensable for oocyte maturation and female fertility in mouse.Scientific reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown.
objectiveTo identify the genetic causes of POI in 110 patients.
methodsWhole-exome sequencing was performed on 110 patients with POI, and putative disease-causative variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed for functional characterisation of the identified candidate disease-causative variants.
resultsWe identified two homozygous variants (NM_001040274: c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in
conclusions
Indexed as
Identifiers
What OpenQuestion holds
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.