ArticleNature communications2018
Identification of rare de novo epigenetic variations in congenital disorders.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed.
- A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.Genome medicine · 2026Trial
- A Population-Based Assessment of Cancer Risk in Children With VACTERL.American journal of medical genetics. Part A · 2026Article
- Epimutation analysis reveals involvement of SLIT2/ROBO signaling pathway in painful diabetic neuropathy.Human genomics · 2026Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits.Journal of neurodevelopmental disorders · 2025Article
- Evolution of genome-wide methylation profiling technologies.Genome research · 2025Review
- The impact of long-read sequencing on human population-scale genomics.Genome research · 2025Review
- Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.Genome medicine · 2025Article
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Statistical methods for assessing the effects of de novo variants on birth defects.Human genomics · 2024Review
- Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.Epigenetics · 2023Article
- Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs).Human genetics · 2023Article
- In search of environmental risk factors for obsessive-compulsive disorder: study protocol for the OCDTWIN project.BMC psychiatry · 2023Article
- Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.Nature communications · 2023Article
- Rare genetic variants underlie outlying levels of DNA methylation and gene-expression.Human molecular genetics · 2023Article
- In search of environmental risk factors for obsessive-compulsive disorder: Study protocol for the OCDTWIN project.Research square · 2023Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.Journal of endocrinological investigation · 2023Article
Corrections and comments
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Authors and funding
24 authors.
Funding
Abstract
Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of such disorders remain unexplained. We hypothesize that some cases of ND-CA are caused by aberrant DNA methylation leading to dysregulated genome function. Comparing DNA methylation profiles from 489 individuals with ND-CAs against 1534 controls, we identify epivariations as a frequent occurrence in the human genome. De novo epivariations are significantly enriched in cases, while RNAseq analysis shows that epivariations often have an impact on gene expression comparable to loss-of-function mutations. Additionally, we detect and replicate an enrichment of rare sequence mutations overlapping CTCF binding sites close to epivariations, providing a rationale for interpreting non-coding variation. We propose that epivariations contribute to the pathogenesis of some patients with unexplained ND-CAs, and as such likely have diagnostic relevance.
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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.