DNA methylation signatures for chromatinopathies: current challenges and future applications

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

(2022) Zain Awamleh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

(2022) Sanaa Choufani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

(2022) Schaida Schirwani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A dyadic approach to the delineation of diagnostic entities in clinical genomics

(2021) Leslie G. Biesecker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

(2021) Dmitrijs Rots et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Anatomy of DNA methylation signatures: Emerging insights and applications

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

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

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

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

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

How good are pathogenicity predictors in detecting benign variants?

(2019) Abhishek Niroula et al.   PLoS Computational Biology

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

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

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

(2019) Jill A Fahrner et al.   HUMAN MOLECULAR GENETICS

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

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

UTX and MLL4 Coordinately Regulate Transcriptional Programs for Cell Proliferation and Invasiveness in Breast Cancer Cells

(2014) Jae-Hwan Kim et al.   CANCER RESEARCH

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