Research graph
References from Clinical Epigenomics in Rare Diseases: Interpreting DNA Methylation Episignatures. Local targets link to admitted publications; unresolved targets remain external evidence.
Beyond the Exome: Utility of Long‐Read Whole Genome Sequencing in Exome‐Negative Autosomal Recessive Diseases
10.1186/s13073-023-01270-8 · 2023 · External reference
Diagnostic Utility of Genome‐Wide DNA Methylation Testing in Genetically Unsolved Individuals With Suspected Hereditary Conditions
10.1016/j.ajhg.2019.03.008 · 2019 · External reference
Genome‐Wide DNA Methylation and RNA Analyses Enable Reclassification of Two Variants of Uncertain Significance in a Patient With Clinical Kabuki Syndrome
10.1002/humu.23833 · 2019 · External reference
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
10.1016/j.ajhg.2020.01.019 · 2020 · External reference
Multi‐Omics Factor Analysis‐a Framework for Unsupervised Integration of Multi‐Omics Data Sets
10.15252/msb.20178124 · 2018 · External reference
Minfi: A Flexible and Comprehensive Bioconductor Package for the Analysis of Infinium DNA Methylation Microarrays
10.1093/bioinformatics/btu049 · 2014 · External reference
Integration of Multi‐Omics Technologies for Molecular Diagnosis in Ataxia Patients
10.3389/fgene.2023.1304711 · 2023 · External reference
Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral
10.1002/cpz1.597 · 2022 · External reference
Transposition of Native Chromatin for Fast and Sensitive Epigenomic Profiling of Open Chromatin, DNA‐Binding Proteins and Nucleosome Position
10.1038/nmeth.2688 · 2013 · External reference
10.1186/s13148‐026‐02077‐1
10.1186/s13148‐026‐02077‐1 · External reference
NSD1 Mutations Generate a Genome‐Wide DNA Methylation Signature
10.1038/ncomms10207 · 2015 · External reference
PRC2‐Complex Related Dysfunction in Overgrowth Syndromes: A Review of EZH2, EED, and SUZ12 and Their Syndromic Phenotypes
10.1002/ajmg.c.31754 · 2019 · External reference
The Additional Diagnostic Yield of Long‐Read Sequencing in Undiagnosed Rare Diseases
10.1101/gr.279970.124 · 2025 · External reference
The Phenotypic Spectrum and Genotype‐Phenotype Correlations in 106 Patients With Variants in Major Autism Gene CHD8
10.1038/s41398-022-02189-1 · 2022 · External reference
Integrated Genetic Analysis Reveals Synaptic m(6)A Enrichment in High‐Risk Autism Genes
10.3389/fnmol.2026.1767983 · 2026 · External reference
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
10.1086/345647 · 2003 · External reference
Epitranscriptomic RNA Modifications in Human Disease: Cooperative Networks, Molecular Mechanisms, and Therapeutic Opportunities
10.1016/j.bbrc.2026.153673 · 2026 · External reference
Comparing Saliva and Blood for the Detection of Mosaic Genomic Abnormalities That Cause Syndromic Intellectual Disability
10.1038/s41431-022-01232-5 · 2023 · External reference
Recognition of 5‐Hydroxymethylcytosine by the Uhrf1 SRA Domain
10.1371/journal.pone.0021306 · 2011 · External reference
Clinical Evaluation of Long‐Read Sequencing‐Based Episignature Detection in Developmental Disorders
10.1186/s13073-024-01419-z · 2025 · External reference
Multilocus Loss of DNA Methylation in Individuals With Mutations in the Histone H3 Lysine 4 Demethylase KDM5C
10.1186/1755-8794-6-1 · 2013 · External reference
Menke‐Hennekam Syndrome; Delineation of Domain‐Specific Subtypes With Distinct Clinical and DNA Methylation Profiles
2024 · External reference
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X‐Linked, Syndromic, Armfield Type
10.3390/ijms22031111 · 2021 · External reference
Episignatures in Practice: Independent Evaluation of Published Episignatures for the Molecular Diagnostics of Ten Neurodevelopmental Disorders
10.1038/s41431-023-01474-x · 2024 · External reference
Genome‐Wide Methylation Detection and Episignature Analysis Using PacBio Long‐Read Sequencing
10.1186/s13073-025-01506-9 · 2026 · External reference
CUT&Tag for Efficient Epigenomic Profiling of Small Samples and Single Cells
10.1038/s41467-019-09982-5 · 2019 · External reference
Diagnostic Utility and Reporting Recommendations for Clinical DNA Methylation Episignature Testing in Genetically Undiagnosed Rare Diseases
10.1016/j.gim.2024.101075 · 2024 · External reference
DNA Methylation Episignature Testing Improves Molecular Diagnosis of Mendelian Chromatinopathies
10.1016/j.gim.2021.08.007 · 2022 · External reference
The Expanding Diagnostic Toolbox for Rare Genetic Diseases
10.1038/s41576-023-00683-w · 2024 · External reference
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A
10.1159/000513199 · 2021 · External reference
Disruption of an EHMT1‐Associated Chromatin‐Modification Module Causes Intellectual Disability
10.1016/j.ajhg.2012.05.003 · 2012 · External reference
10.1186/s13148‐026‐02120‐1
10.1186/s13148‐026‐02120‐1 · External reference
Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature‐Based Multi‐Omics Evidence
10.3390/biom16030399 · 2026 · External reference
Methylation Signatures in Clinically Variable Syndromic Disorders: A Familial DNMT3A Variant in Two Adults With Tatton‐Brown‐Rahman Syndrome
10.1038/s41431-023-01459-w · 2023 · External reference
Diagnostic Utility of DNA Methylation Analysis in Genetically Unsolved Pediatric Epilepsies and CHD2 Episignature Refinement
10.1038/s41467-024-50159-6 · 2024 · External reference
Focus on Single‐Gene Effects Limits Discovery and Interpretation of Complex‐Trait‐Associated Variants
10.1016/j.ajhg.2026.02.022 · 2026 · External reference
Deficiency of TET3 Leads to a Genome‐Wide DNA Hypermethylation Episignature in Human Whole Blood
10.1038/s41525-021-00256-y · 2021 · External reference
Novel Diagnostic DNA Methylation Episignatures Expand and Refine the Epigenetic Landscapes of Mendelian Disorders
2022 · External reference
10.1002/acn3.70379
10.1002/acn3.70379 · External reference
Mutations in SETD2 Cause a Novel Overgrowth Condition
10.1136/jmedgenet-2014-102402 · 2014 · External reference
DNA Methylation Profiling in Kabuki Syndrome: Reclassification of Germline KMT2D VUS and Sensitivity in Validating Postzygotic Mosaicism
10.1038/s41431-024-01597-9 · 2024 · External reference
Episignature Analysis of Moderate Effects and Mosaics
10.1038/s41431-023-01406-9 · 2023 · External reference
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein‐Taybi Syndrome With Atypical and Severe Clinical Manifestations
10.1111/cge.14654 · 2025 · External reference
De Novo Identification of Differentially Methylated Regions in the Human Genome
10.1186/1756-8935-8-6 · 2015 · External reference
DNA Methylation Signature of Human Fetal Alcohol Spectrum Disorder
10.1186/s13072-016-0074-4 · 2016 · External reference
The PWWP Domain of Mammalian DNA Methyltransferase Dnmt3b Defines a New Family of DNA‐Binding Folds
2002 · External reference
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
10.1002/ajh.70141 · 2026 · External reference
Transforming Blood‐Derived Episignatures Into Cell‐Type‐Agnostic Classifiers: A Shortcut to Prenatal Episignatures
10.1016/j.ajhg.2026.06.017 · 2026 · External reference
Clinical Epigenomics: Genome‐Wide DNA Methylation Analysis for the Diagnosis of Mendelian Disorders
10.1038/s41436-020-01096-4 · 2021 · External reference
Systematic Perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L Reveal Their Distinct Contributions to H3K36 Methylation
10.1186/s13059-024-03415-3 · 2024 · External reference
DIABLO: An Integrative Approach for Identifying Key Molecular Drivers From Multi‐Omics Assays
10.1093/bioinformatics/bty1054 · 2019 · External reference
Nanopore Long‐Read Sequencing for the Critically Ill Facilitates Ultrarapid Diagnostics and Urgent Clinical Decision Making
10.1038/s41431-025-01959-x · 2026 · External reference
DNMT3B PWWP Mutations Cause Hypermethylation of Heterochromatin
10.1038/s44319-024-00061-5 · 2024 · External reference
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients With Clinical Suspicion of Sotos Syndrome
10.3390/genes14020295 · 2023 · External reference
ChAMP: Updated Methylation Analysis Pipeline for Illumina BeadChips
10.1093/bioinformatics/btx513 · 2017 · External reference
Evaluating DNA Methylation Episignatures as a First‐Tier Diagnostic Test in Individuals With Suspected Genetic Disorders
10.1038/s41431-025-01939-1 · 2026 · External reference
DNA Methylation Analysis in Patients With Neurodevelopmental Disorders Improves Variant Interpretation and Reveals Complexity
2024 · External reference
EpigenCentral: Portal for DNA Methylation Data Analysis and Classification in Rare Diseases
10.1002/humu.24076 · 2020 · External reference
Discovery of a DNA Methylation Episignature as a Molecular Biomarker for Fetal Alcohol Syndrome
10.1016/j.gim.2025.101586 · 2025 · External reference
The Performance of Genome Sequencing as a First‐Tier Test for Neurodevelopmental Disorders
10.1038/s41431-022-01185-9 · 2023 · External reference
10.1038/s41467‐026‐71741‐0
10.1038/s41467‐026‐71741‐0 · External reference
H3K9 Methylation Regulates Heterochromatin Silencing Through Incoherent Feedforward Loops
10.1126/sciadv.adn4149 · 2024 · External reference
The Improvement in Diagnostic Yield of Developmental and Epileptic Encephalopathy by the Multi‐Omics Sequential Testing Method
10.1016/j.bbadis.2025.167854 · 2025 · External reference
m6A Modification of Non‐Coding RNA: Mechanisms, Functions and Potential Values in Human Diseases (Review)
10.3892/ijmm.2025.5605 · 2025 · External reference
Functional Roles of H3K4 Methylation in Transcriptional Regulation
10.1080/10985549.2024.2388254 · 2024 · External reference
SeSAMe: Reducing Artifactual Detection of DNA Methylation by Infinium BeadChips in Genomic Deletions
2018 · External reference
