EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

(2020) Sanaa Choufani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Don’t brush off buccal data heterogeneity

(2019) Andrei L. Turinsky et al.   Epigenetics

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

(2019) Eric G. Bend et al.   Clinical Epigenetics

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

(2019) Eric Chater-Diehl et al.   BMC Medical Genomics

Advances in epigenetics link genetics to the environment and disease

(2019) Giacomo Cavalli et al.   NATURE

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

GenPipes: an open-source framework for distributed and scalable genomic analyses

(2019) Mathieu Bourgey et al.   GigaScience

DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

(2019) Malgorzata Pienkowska et al.   Clinical Epigenetics

ClinVar: improvements to accessing data

(2019) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

A genome-wide DNA methylation signature for SETD1B-related syndrome

(2019) I. M. Krzyzewska et al.   Clinical Epigenetics

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNA methylation-based classification of central nervous system tumours

(2018) David Capper et al.   NATURE

The Key Role of Epigenetics in Human Disease Prevention and Mitigation

(2018) Andrew P. Feinberg   NEW ENGLAND JOURNAL OF MEDICINE

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

The Gene Ontology Resource: 20 years and still GOing strong

(2018)   NUCLEIC ACIDS RESEARCH

Identification of 55,000 Replicated DNA Methylation QTL

(2018) Allan F. McRae et al.   Scientific Reports

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

(2017) Nara Sobreira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

(2017) Jack Brzezinski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Encyclopedia of DNA elements (ENCODE): data portal update

(2017) Carrie A Davis et al.   NUCLEIC ACIDS RESEARCH

Epigenetic plasticity and the hallmarks of cancer

(2017) William A. Flavahan et al.   SCIENCE

Structural basis for activity regulation of MLL family methyltransferases

(2016) Yanjing Li et al.   NATURE

NGSmethDB 2017: enhanced methylomes and differential methylation

(2016) Ricardo Lebrón et al.   NUCLEIC ACIDS RESEARCH

DiseaseMeth version 2.0: a major expansion and update of the human disease methylation database

(2016) Yichun Xiong et al.   NUCLEIC ACIDS RESEARCH

DeepBlue epigenomic data server: programmatic data retrieval and analysis of epigenome region sets

(2016) Felipe Albrecht et al.   NUCLEIC ACIDS RESEARCH

Comprehensive DNA Methylation and Mutation Analyses Reveal a Methylation Signature in Colorectal Sessile Serrated Adenomas

(2016) Árpád V. Patai et al.   PATHOLOGY & ONCOLOGY RESEARCH

Epigenetic Determinants of Cancer

(2016) Stephen B. Baylin et al.   Cold Spring Harbor Perspectives in Biology

The International Human Epigenome Consortium Data Portal

(2016) David Bujold et al.   Cell Systems

Identification of a DNA methylation signature in blood cells from persons with Down Syndrome

(2016) Maria Giulia Bacalini et al.   Aging-US

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

(2015) Emma Strong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor

(2015) Nathan C. Sheffield et al.   BIOINFORMATICS

Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci

(2015) Mathieu Lemire et al.   Nature Communications

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival

(2014) Shahzia Anjum et al.   Genome Medicine

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

(2013) Elin Grundberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

(2013) Daria Grafodatskaya et al.   BMC Medical Genomics

Genome-wide profiling identifies a DNA methylation signature that associates with TET2 mutations in diffuse large B-cell lymphoma

(2013) F. Asmar et al.   HAEMATOLOGICA

Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

(2013) Jean-Benoît Courcet et al.   JOURNAL OF PEDIATRICS

A Reference Methylome Database and Analysis Pipeline to Facilitate Integrative and Comparative Epigenomics

(2013) Qiang Song et al.   PLoS One

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia

(2012) Marta Kulis et al.   NATURE GENETICS

The NIH Roadmap Epigenomics Program data resource

(2012) Lisa Helbling Chadwick   Epigenomics

methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles

(2012) Altuna Akalin et al.   GENOME BIOLOGY

Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications

(2011) Felix Krueger et al.   BIOINFORMATICS

Regulation of chromatin by histone modifications

(2011) Andrew J Bannister et al.   CELL RESEARCH

DNA Methylation Signatures Identify Biologically Distinct Subtypes in Acute Myeloid Leukemia

(2010) Maria E. Figueroa et al.   CANCER CELL

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY