Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)

Validation of the new EPIC DNA methylation microarray (900K EPIC v2) for high-throughput profiling of the human DNA methylome

(2023) Aleix Noguera-Castells et al.   Epigenetics

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

(2022) Eline A. Verberne et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features

(2022) Leroy Bondhus et al.   BMC BIOINFORMATICS

An evaluation of the genome-wide false positive rates of common methods for identifying differentially methylated regions using illumina methylation arrays

(2022) Yuanchao Zheng et al.   Epigenetics

Improving Infinium MethylationEPIC data processing: re-annotation of enhancers and long noncoding RNA genes and benchmarking of normalization methods

(2022) Martin Bizet et al.   Epigenetics

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

(2022) Jet Coenen-van der Spek et al.   GENETICS IN MEDICINE

Identification of differentially methylated regions in rare diseases from a single-patient perspective

(2022) Robin Grolaux et al.   Clinical Epigenetics

DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia

(2021) Eilis Hannon et al.   eLife

Anatomy of DNA methylation signatures: Emerging insights and applications

(2021) Eric Chater-Diehl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance

(2021) Masayo Kagami et al.   Clinical Epigenetics

DNA methylation in genes associated with the evolution of ageing and disease: A critical review

(2021) Mark Tomás Mc Auley   AGEING RESEARCH REVIEWS

The Epigenome in Neurodevelopmental Disorders

(2021) Julia Reichard et al.   Frontiers in Neuroscience

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

The advantages of the Matthews correlation coefficient (MCC) over F1 score and accuracy in binary classification evaluation

(2020) Davide Chicco et al.   BMC GENOMICS

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

(2020) Andrei L. Turinsky et al.   HUMAN MUTATION

Comparison of Illumina 450K and EPIC arrays in placental DNA methylation

(2019) Nora Fernandez-Jimenez et al.   Epigenetics

Correlation of Infinium HumanMethylation450K and MethylationEPIC BeadChip arrays in cartilage

(2019) Kathleen Cheung et al.   Epigenetics

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

An evaluation of supervised methods for identifying differentially methylated regions in Illumina methylation arrays

(2018) Saurav Mallik et al.   BRIEFINGS IN BIOINFORMATICS

Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi

(2016) Jean-Philippe Fortin et al.   BIOINFORMATICS

DNA Methylation Signature Reveals Cell Ontogeny of Renal Cell Carcinomas

(2016) G. G. Malouf et al.   CLINICAL CANCER RESEARCH

Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences

(2016) Sebastian Moran et al.   Epigenomics

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

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

Low-level processing of Illumina Infinium DNA Methylation BeadArrays

(2013) Timothy J. Triche et al.   NUCLEIC ACIDS RESEARCH

A beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data

(2012) Andrew E. Teschendorff et al.   BIOINFORMATICS

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

(2012) Andrew E Jaffe et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genome-wide Methylation Profiles Reveal Quantitative Views of Human Aging Rates

(2012) Gregory Hannum et al.   MOLECULAR CELL

Complete pipeline for Infinium® Human Methylation 450K BeadChip data processing using subset quantile normalization for accurate DNA methylation estimation

(2012) Nizar Touleimat et al.   Epigenomics

SWAN: Subset-quantile Within Array Normalization for Illumina Infinium HumanMethylation450 BeadChips

(2012) Jovana Maksimovic et al.   GENOME BIOLOGY

Evaluation of the Infinium Methylation 450K technology

(2011) Sarah Dedeurwaerder et al.   Epigenomics

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

(2009) Simon G Gregory et al.   BMC Medicine

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols