Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-10-23
DOI
10.1038/s41431-023-01474-x
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- DNA methylation signatures for chromatinopathies: current challenges and future applications
- (2023) Zain Awamleh et al. HUMAN GENETICS
- Episignature analysis of moderate effects and mosaics
- (2023) Konrad Oexle et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- DNA methylation episignature in Gabriele-de Vries syndrome
- (2022) Florian Cherik et al. GENETICS IN MEDICINE
- CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
- (2022) Flavien Rouxel et al. GENETICS IN MEDICINE
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
- (2022) Aidin Foroutan et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
- (2022) Michael A. Levy et al. HUMAN MUTATION
- ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
- (2022) Zain Awamleh et al. HUMAN MOLECULAR GENETICS
- Chromatin Sensing by the Auxiliary Domains of KDM5C Regulates Its Demethylase Activity and Is Disrupted by X-linked Intellectual Disability Mutations
- (2022) Fatima S. Ugur et al. JOURNAL OF MOLECULAR BIOLOGY
- Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
- (2021) Sadegheh Haghshenas et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
- (2021) L. C. Schenkel et al. Clinical Epigenetics
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
- (2021) Francesca Clementina Radio et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
- (2021) Bekim Sadikovic et al. GENETICS IN MEDICINE
- Anatomy of DNA methylation signatures: Emerging insights and applications
- (2021) Eric Chater-Diehl et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome
- (2021) Kathleen Rooney et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
- (2021) Nazanin Mirza-Schreiber et al. BRAIN
- DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
- (2021) Jennifer Kerkhof et al. GENETICS IN MEDICINE
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
- (2020) Erfan Aref-Eshghi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders
- (2020) Bekim Sadikovic et al. HUMAN MOLECULAR GENETICS
- EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases
- (2020) Andrei L. Turinsky et al. HUMAN MUTATION
- methylclock: a Bioconductor package to estimate DNA methylation age
- (2020) Dolors Pelegí-Sisó et al. BIOINFORMATICS
- Evidence for 28 genetic disorders discovered by combining healthcare and research data
- (2020) Joanna Kaplanis et al. NATURE
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
- (2019) Eric G. Bend et al. Clinical Epigenetics
- Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants
- (2019) M. T. Siu et al. Clinical Epigenetics
- Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
- (2018) Steve Horvath et al. Aging-US
- BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
- (2018) Erfan Aref-Eshghi et al. Nature Communications
- The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
- (2017) Erfan Aref-Eshghi et al. Epigenetics
- Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
- (2017) Laila C. Schenkel et al. Epigenetics & Chromatin
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays
- (2014) Martin J. Aryee et al. BIOINFORMATICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started