New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

The SWI/SNF complex subunit genes: Their functions, variations, and links to risk and survival outcomes in human cancers

(2018) Sevtap Savas et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

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

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

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

Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders

(2017) Godwin Sokpor et al.   Frontiers in Molecular Neuroscience

NewSMARCA2mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

(2016) S. Tang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA Methylation and BMI: Investigating Identified Methylation Sites atHIF3Ain a Causal Framework

(2016) Rebecca C. Richmond et al.   DIABETES

Withdrawn/Depressed Behaviors and Error-Related Brain Activity in Youth With Obsessive-Compulsive Disorder

(2016) Gregory L. Hanna et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

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

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

An evaluation of statistical methods for DNA methylation microarray data analysis

(2015) Dongmei Li et al.   BMC BIOINFORMATICS

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

(2015) Ivone US Leong et al.   BMC Medical Genetics

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

(2015) Francesca Mari et al.   BRAIN & DEVELOPMENT

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

Runx2: Structure, function, and phosphorylation in osteoblast differentiation

(2015) S. Vimalraj et al.   INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Phenotype and genotype in Nicolaides-Baraitser syndrome

(2014) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

When Rare Illuminates Common: How Cardiocutaneous Syndromes Transformed Our Perspective on Arrhythmogenic Cardiomyopathy

(2014) Srijita Sen-Chowdhry et al.   CELL COMMUNICATION AND ADHESION

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

(2013) Pierre Moffatt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Mechanisms by which aCACNA1Hmutation in epilepsy patients increases seizure susceptibility

(2013) Veit-Simon Eckle et al.   JOURNAL OF PHYSIOLOGY-LONDON

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation

(2012) Yi-an Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noncanonical Wnt Signaling Maintains Hematopoietic Stem Cells in the Niche

(2012) Ryohichi Sugimura et al.   CELL

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies

(2012) Andrew E Jaffe et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

SWI/SNF Chromatin-remodeling Factors: Multiscale Analyses and Diverse Functions

(2012) Ghia Euskirchen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic insights into the causes and classification of the cerebral palsies

(2012) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Late-gestational systemic hypoxia leads to a similar early gene response in mouse placenta and developing brain

(2010) Regina Trollmann et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution

(2010) Yann Loe-Mie et al.   HUMAN MOLECULAR GENETICS

Chromatin remodelling during development

(2010) Lena Ho et al.   NATURE

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION