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

Coexpression patterns define epigenetic regulators associated with neurological dysfunction

(2019) Leandros Boukas et al.   GENOME RESEARCH

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

Histone acetyltransferase inhibitors: An overview in synthesis, structure-activity relationship and molecular mechanism

(2019) Mengyuan Huang et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes 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

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

(2018) Nina Bögershausen et al.   Frontiers in Molecular Neuroscience

DNA Methyltransferase Inhibitors and Their Therapeutic Potential

(2018) Zehao Zhou et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

(2018) Patricia Heyn et al.   NATURE GENETICS

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

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

Epigenetic Etiology of Intellectual Disability

(2017) Shigeki Iwase et al.   JOURNAL OF NEUROSCIENCE

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

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

Bromodomain inhibitors and cancer therapy: From structures to applications

(2016) Montserrat Pérez-Salvia et al.   Epigenetics

A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome

(2016) Joel S. Benjamin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systematic mapping of functional enhancer–promoter connections with CRISPR interference

(2016) Charles P. Fulco et al.   SCIENCE

Histone Lysine Demethylase Inhibitors

(2016) Ashwini Jambhekar et al.   Cold Spring Harbor Perspectives in Medicine

Epigenome-wide Association Studies and the Interpretation of Disease -Omics

(2016) Ewan Birney et al.   PLoS Genetics

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

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

The defining DNA methylation signature of Floating-Harbor Syndrome

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

Small-Molecule Modulators of Methyl-Lysine Binding for the CBX7 Chromodomain

(2015) Chunyan Ren et al.   CHEMISTRY & BIOLOGY

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

(2015) Nina Bögershausen et al.   JOURNAL OF CLINICAL INVESTIGATION

Measuring and Reducing Off-Target Activities of Programmable Nucleases Including CRISPR-Cas9

(2015) Taeyoung Koo et al.   MOLECULES AND CELLS

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

(2015) Isaac B Hilton et al.   NATURE BIOTECHNOLOGY

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

(2015) Mariam Almuriekhi et al.   Cell Reports

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

Targeting components of epigenome by small molecules

(2014) Jueng Soo You et al.   ARCHIVES OF PHARMACAL RESEARCH

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

EZH2 as a potential target in cancer therapy

(2014) Michael T McCabe et al.   Epigenomics

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

(2013) Anne Gregor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

From neural development to cognition: unexpected roles for chromatin

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

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear

(2010) E. A. Hurd et al.   DEVELOPMENT

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

(2009) M. Berdasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA