Anatomy of DNA methylation signatures: Emerging insights and applications

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

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

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

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

(2020) Sara Cuvertino et al.   GENETICS IN MEDICINE

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

(2020) Andrea Ciolfi et al.   Clinical Epigenetics

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

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

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

(2020) Gerarda Cappuccio et al.   GENETICS IN MEDICINE

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

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

(2019) Vera G. Pshennikova et al.   TheScientificWorldJOURNAL

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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 signatures in overgrowth syndromes: Translational opportunities

(2019) Cheryl Cytrynbaum et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

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

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

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

(2018) Laila C. Schenkel et al.   Clinical Epigenetics

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

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

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

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

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

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells

(2017) Ping Wang et al.   Molecular Autism

Improving cell mixture deconvolution by identifying optimal DNA methylation libraries (IDOL)

(2016) Devin C. Koestler et al.   BMC BIOINFORMATICS

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment

(2015) Ping Wang et al.   Molecular Autism

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

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

miRNA and mRNA cancer signatures determined by analysis of expression levels in large cohorts of patients

(2013) S. Zadran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS