Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

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

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

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

(2017) Erfan Aref-Eshghi et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

(2017) Laila C. Schenkel et al.   Epigenetics & Chromatin

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome

(2016) Laila C. Schenkel et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

(2016) Laila C. Schenkel et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

(2016) Kristin D. Kernohan et al.   Clinical Epigenetics

The defining DNA methylation signature of Floating-Harbor Syndrome

(2016) Rebecca L. Hood et al.   Scientific Reports

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

Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation

(2015) Tuncay Baubec et al.   NATURE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Building Predictive Models inRUsing thecaretPackage

(2015) Max Kuhn   Journal of Statistical Software

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

(2014) Jill A. Fahrner et al.   Annual Review of Genomics and Human Genetics

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

(2014) Martin J. Aryee et al.   BIOINFORMATICS

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Cancer Epigenetics: From Mechanism to Therapy

(2012) Mark A. Dawson et al.   CELL

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

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

Molecular coupling of DNA methylation and histone methylation

(2010) Hideharu Hashimoto et al.   Epigenomics

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

(2009) Sinitdhorn Rujirabanjerd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel mutation inJARID1C/SMCX in a patient with autism spectrum disorder (ASD)

(2008) Abidemi Adegbola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation

(2008) Jing Wang et al.   NATURE GENETICS