ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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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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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Systematic mapping and in silico reevaluation of genomic copy number variations in primary ovarian insufficiency.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Insights into the Genetic and Epigenetic Landscape of Endocrine Autoimmunity: A Systematic Review.Genes · 2025Pooled it
- Genome-Wide Detection of Copy Number Variation and Association Studies With Physiological and Anatomical Indicators of Heat Stress Response in Lactating Sows.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026Article
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- BCORL1, POF1B, and USP9X copy number variation in women with idiopathic diminished ovarian reserve.Journal of assisted reproduction and genetics · 2024Article
- Primary Amenorrhea and Premature Ovarian Insufficiency.Endocrinology and metabolism clinics of North America · 2024Review
- Article
- Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing.Annals of medicine · 2023Article
- The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases.Scientific reports · 2021Article
- Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.BMC genomics · 2021Article
- Cytogenetic signatures of recurrent pregnancy losses.Prenatal diagnosis · 2021Article
- Genetics of human female infertility†.Biology of reproduction · 2019Review
- X Inactivation and Escape: Epigenetic and Structural Features.Frontiers in cell and developmental biology · 2019Review
- Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling.Porto biomedical journalReview
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
purposeSex-biased expression of genes on the X chromosome is accomplished by a complex mechanism of dosage regulation that leads to anatomical and physiological differences between males and females. Copy-number variations (CNVs) may impact the human genome by either affecting gene dosage or disturbing a chromosome structural and/or functional integrity.
methodsWe performed a high-resolution CNV profiling to investigate the X chromosome integrity in cohorts of 269 fertile females and 111 women affected with primary ovarian insufficiency (POI) and assessed CNVs impact into functional and nonfunctional genomic elements.
resultsIn POI patients, we observed a 2.5-fold enrichment for rare CNVs comprising ovary-expressed genes, and genes implicated in autoimmune response and apoptotic signaling. Moreover, there was a higher prevalence of deletions encompassing genes that escape X inactivation, noncoding RNAs, and intergenic DNA sequences among POI females, highlighting structural differences between X chromosomes of fertile and POI females. Furthermore, we discovered a ~4% carrier incidence for X-linked disorders among fertile women.
conclusionWe constructed a high-resolution map of female-specific CNVs that provides critical insights into the spectrum of human genetic variation, sex-specific disease risk factors, and reproductive potential. We discovered novel CNVs associated with ovarian dysfunction and support polygenic models for POI.
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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.