ArticleAmerican journal of human genetics2008
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 2 of them syntheses that pooled it.
What it found
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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
185 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Biliary atresia in twins: a systematic review and meta-analysis.Pediatric surgery international · 2020Pooled it
- Characterization of large structural genetic mosaicism in human autosomes.American journal of human genetics · 2015Pooled it
- A Comparison of Personality, Life Events, Comorbidity, and Health in Monozygotic Twins Discordant for Anorexia Nervosa.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2017Trial
- Asymmetric attrition and secondary chromosome destabilization after double-strand breaks in human embryonic development.Nature communications · 2026Article
- 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
- Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins.Journal of assisted reproduction and genetics · 2025Article
- Genetic Determinants of Endurance: A Narrative Review on Elite Athlete Status and Performance.International journal of molecular sciences · 2024Review
- Metabolomics efficiently discriminates monozygotic twins in peripheral blood.International journal of legal medicine · 2024Article
- Technical strategy for monozygotic twin discrimination by single-nucleotide variants.International journal of legal medicine · 2024Article
- How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Phenotypically Discordant Anomalies in Conjoined Twins: Quirks of Nature Governed by Molecular Pathways?Diagnostics (Basel, Switzerland) · 2023Review
- Article
- The TgF344-AD rat: behavioral and proteomic changes associated with aging and protein expression in a transgenic rat model of Alzheimer's disease.Neurobiology of aging · 2023Article
- SNP and DNA methylation analyses of a monozygotic twins discordant for complete endocardial cushion defect: a case report.American journal of translational research · 2022Article
- Dignity neuroscience: universal rights are rooted in human brain science.Annals of the New York Academy of Sciences · 2021Review
- Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Genes · 2021Review
- Comprehensive identification of somatic nucleotide variants in human brain tissue.Genome biology · 2021Article
- Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.Molecular genetics & genomic medicine · 2021Article
- Mosaicism in Human Health and Disease.Annual review of genetics · 2020Review
125 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors.
Funding
Abstract
The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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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.