Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

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

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

(2019) Bekim Sadikovic et al.   Epigenomics

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

Mutations in ADNP affect expression and subcellular localization of the protein

(2018) Elisa Cappuyns et al.   CELL CYCLE

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis

(2018) Lara Kular 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

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

ADNP Regulates Cognition: A Multitasking Protein

(2018) Illana Gozes   Frontiers in Neuroscience

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

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

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

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

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

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

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

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

(2017) Mari Muurinen et al.   Scientific Reports

ReactomePA: an R/Bioconductor package for reactome pathway analysis and visualization

(2016) Guangchuang Yu et al.   Molecular BioSystems

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

(2016) Maria Isabel Alvarez-Mora et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease

(2016) N. T. Ventham et al.   Nature Communications

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

Distinct Epigenetic Effects of Tobacco Smoking in Whole Blood and among Leukocyte Subtypes

(2016) Dan Su 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

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

Genome-wide methylation analysis in Silver–Russell syndrome patients

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

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

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

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

A systems-level integrative framework for genome-wide DNA methylation and gene expression data identifies differential gene expression modules under epigenetic control

(2014) Yinming Jiao et al.   BIOINFORMATICS

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Casein Kinase 2 Phosphorylation of Protein Kinase C and Casein Kinase 2 Substrate in Neurons (PACSIN) 1 Protein Regulates Neuronal Spine Formation

(2013) Sylvia Schael et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

Continuous Aging of the Human DNA Methylome Throughout the Human Lifespan

(2013) Åsa Johansson et al.   PLoS One

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

SWI/SNF complex in disorder

(2012) Gijs W.E. Santen et al.   Epigenetics

PACSIN1, a Tau-interacting Protein, Regulates Axonal Elongation and Branching by Facilitating Microtubule Instability

(2012) Yingying Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility

(2012) Lovisa E. Reinius et al.   PLoS One

The ADNP Derived Peptide, NAP Modulates the Tubulin Pool: Implication for Neurotrophic and Neuroprotective Activities

(2012) Saar Oz et al.   PLoS One

HP1 Recruits Activity-Dependent Neuroprotective Protein to H3K9me3 Marked Pericentromeric Heterochromatin for Silencing of Major Satellite Repeats

(2011) Kerstin Mosch et al.   PLoS One

CARPs enhance p53 turnover by degrading 14-3-3σ and stabilizing MDM2

(2010) Wensheng Yang et al.   CELL CYCLE

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH