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

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

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

(2019) Eric G. Bend et al.   Clinical Epigenetics

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

(2019) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurotransmitter Pathway Genes in Cognitive Decline During Aging: Evidence for GNG4 and KCNQ2 Genes

(2018) Luke W. Bonham et al.   American Journal of Alzheimers Disease and Other Dementias

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

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

Critical evaluation of linear regression models for cell-subtype specific methylation signal from mixed blood cell DNA

(2018) Daniel W. Kennedy et al.   PLoS One

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

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

(2017) Wenjuan Chen et al.   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

The Reactome Pathway Knowledgebase

(2017) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

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

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

Linker histone H1 prevents R-loop accumulation and genome instability in heterochromatin

(2017) Aleix Bayona-Feliu et al.   Nature Communications

The DLGAP family: neuronal expression, function and role in brain disorders

(2017) Andreas H. Rasmussen et al.   Molecular Brain

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

(2016) Dong Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

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

Neuroligin 2 regulates spinal GABAergic plasticity in hyperalgesic priming, a model of the transition from acute to chronic pain

(2016) Ji-Young V. Kim et al.   PAIN

The H1 linker histones: multifunctional proteins beyond the nucleosomal core particle

(2015) S. P. Hergeth et al.   EMBO 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

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

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

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

Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities

(2013) Wiljan J.A.J. Hendriks et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

The Genomic Landscape of the Somatic Linker Histone Subtypes H1.1 to H1.5 in Human Cells

(2013) Annalisa Izzo et al.   Cell Reports

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

Absence of Ca2+-stimulated adenylyl cyclases leads to reduced synaptic plasticity and impaired experience-dependent fear memory

(2012) L Wieczorek et al.   Translational Psychiatry

Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability

(2010) Dina Ruano et al.   AMERICAN JOURNAL OF HUMAN GENETICS