ArticleFrontiers in genetics2021
Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.Scientific reports · 2026Article
- A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Genetic Association ofInternational journal of molecular sciences · 2025Article
- Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing.European journal of medical research · 2025Article
- Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.Journal of clinical laboratory analysis · 2025Article
- A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.Molecular genetics & genomic medicine · 2025Article
- Post-implantation analysis of genomic variations in the progeny from developing fetus to birth.Human genomics · 2024Article
- Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.Human genetics · 2024Article
- Whole exome sequencing identifies a novel mutation inFrontiers in medicine · 2024Article
- Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages.Global medical genetics · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Preimplantation genetic testing for aneuploidy helps to achieve a live birth with fewer transfer cycles for the blastocyst FET patients with unexplained recurrent implantation failure.Archives of gynecology and obstetrics · 2023Article
- Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.Frontiers in genetics · 2023Article
- Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management.Medical review (2021) · 2022Review
- Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.Annals of translational medicine · 2022Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent pregnancy loss (RPL) is a common reproductive problem affecting around 5% of couples worldwide. At present, about half of RPL cases remained unexplained. Previous studies have suggested an important role for genetic determinants in the etiology of RPL. Here, we performed whole-exome sequencing (WES) analysis on 100 unrelated Han Chinese women with a history of two or more spontaneous abortions. We identified 6736 rare deleterious nonsynonymous variants across all patients. To focus on possible candidate genes, we generated a list of 95 highly relevant genes that were functionally associated with miscarriage according to human and mouse model studies, and found 35 heterozygous variants of 28 RPL-associated genes in 32 patients. Four genes (
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