DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype

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

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

(2018) Anke Van Dijck et al.   BIOLOGICAL PSYCHIATRY

A suite of DNA methylation markers that can detect most common human cancers

(2018) Lukas Vrba et al.   Epigenetics

Developing DNA methylation-based diagnostic biomarkers

(2018) Hyerim Kim et al.   Journal of Genetics and Genomics

Disruption ofNSD1in Head and Neck Cancer Promotes Favorable Chemotherapeutic Responses Linked to Hypomethylation

(2018) Nam Bui et al.   MOLECULAR CANCER THERAPEUTICS

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

(2018) Peter Henneman et al.   PLoS One

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

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

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues

(2018) Erfan Aref-Eshghi et al.   Frontiers in Oncology

Genetics meets DNA methylation in rare diseases

(2018) Guillaume Velasco et al.   CLINICAL GENETICS

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

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

Estimation of a significance threshold for epigenome-wide association studies

(2017) Ayden Saffari et al.   GENETIC EPIDEMIOLOGY

Dynamics and Context-Dependent Roles of DNA Methylation

(2017) Christina Ambrosi et al.   JOURNAL OF MOLECULAR BIOLOGY

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

DNA methylation markers for diagnosis and prognosis of common cancers

(2017) Xiaoke Hao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome

(2017) Di Wu et al.   Science China-Life Sciences

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

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

Epigenetic signatures of gestational diabetes mellitus on cord blood methylation

(2017) Larissa Haertle et al.   Clinical Epigenetics

Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome

(2017) T. Guastafierro et al.   Clinical Epigenetics

BECon: a tool for interpreting DNA methylation findings from blood in the context of brain

(2017) R D Edgar et al.   Translational Psychiatry

Editing DNA Methylation in the Mammalian Genome

(2016) X. Shawn Liu et al.   CELL

Epigenetic dysregulation in the developing Down syndrome cortex

(2016) Nady El Hajj et al.   Epigenetics

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

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

Quantitative comparison of DNA methylation assays for biomarker development and clinical applications

(2016) Christoph Bock et al.   NATURE BIOTECHNOLOGY

The molecular hallmarks of epigenetic control

(2016) C. David Allis et al.   NATURE REVIEWS GENETICS

DNA methylation signature of human fetal alcohol spectrum disorder

(2016) Elodie Portales-Casamar et al.   Epigenetics & Chromatin

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

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

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

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

Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome

(2016) Lotte Hatt et al.   PLoS One

The defining DNA methylation signature of Floating-Harbor Syndrome

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

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

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic: Table 1

(2015) T A Briggs et al.   ARCHIVES OF DISEASE IN CHILDHOOD

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

Genome-wide methylation analysis in Silver–Russell syndrome patients

(2015) A. R. Prickett et al.   HUMAN GENETICS

Power and sample size estimation for epigenome-wide association scans to detect differential DNA methylation

(2015) Pei-Chien Tsai et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome

(2015) L. Simo-Riudalbas et al.   PLoS One

Correspondence of DNA Methylation Between Blood and Brain Tissue and Its Application to Schizophrenia Research

(2015) Esther Walton et al.   SCHIZOPHRENIA BULLETIN

Concordant and discordant DNA methylation signatures of aging in human blood and brain

(2015) Pau Farré et al.   Epigenetics & Chromatin

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics

(2015) C. Kadoch et al.   Science Advances

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

Validation of a Real-Time PCR-Based Qualitative Assay for the Detection of Methylated SEPT9 DNA in Human Plasma

(2014) N. T. Potter et al.   CLINICAL CHEMISTRY

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

(2014) Mariëlle Alders et al.   European Journal of Medical Genetics

TumourMLH1promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

(2014) K Newton et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

MGMT testing—the challenges for biomarker-based glioma treatment

(2014) Wolfgang Wick et al.   Nature Reviews Neurology

Strategies for validation and testing of DNA methylation biomarkers

(2014) Christa Noehammer et al.   Epigenomics

DNA methylation signatures link prenatal famine exposure to growth and metabolism

(2014) Elmar W. Tobi et al.   Nature Communications

An Epigenetic Signature in Peripheral Blood Associated with the Haplotype on 17q21.31, a Risk Factor for Neurodegenerative Tauopathy

(2014) Yun Li et al.   PLoS 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

Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in down syndrome

(2013) Meaghan J Jones et al.   BMC Medical Genomics

Interplay between the Cancer Genome and Epigenome

(2013) Hui Shen et al.   CELL

Cancer gene expression signatures – The rise and fall?

(2013) Frederic Chibon   EUROPEAN JOURNAL OF CANCER

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

Prospective evaluation of methylatedSEPT9in plasma for detection of asymptomatic colorectal cancer

(2013) Timothy Robert Church et al.   GUT

Genetic syndromes caused by mutations in epigenetic genes

(2013) María Berdasco et al.   HUMAN GENETICS

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

(2013) Allison M. Cotton et al.   HUMAN MOLECULAR GENETICS

H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation

(2013) Ji-Eun Lee et al.   eLife

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

Incidental copy-number variants identified by routine genome testing in a clinical population

(2012) Philip M. Boone et al.   GENETICS IN MEDICINE

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

(2012) Weimin Bi et al.   GENETICS IN MEDICINE

DNA methylation profiling in the clinic: applications and challenges

(2012) Holger Heyn et al.   NATURE REVIEWS GENETICS

Epigenetic regulation in pluripotent stem cells: a key to breaking the epigenetic barrier

(2012) A. Watanabe et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

(2010) A. K. Lucio-Eterovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered DNA Methylation in Leukocytes with Trisomy 21

(2010) Kristi Kerkel et al.   PLoS Genetics

Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells

(2009) Madeleine P Ball et al.   NATURE BIOTECHNOLOGY

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

(2008) Weimin Bi et al.   PRENATAL DIAGNOSIS