De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Cryo-EM structure of SWI/SNF complex bound to a nucleosome

(2020) Yan Han et al.   NATURE

Mechanism of DNA translocation underlying chromatin remodelling by Snf2

(2019) Meijing Li et al.   NATURE

Engineering a Model Cell for Rational Tuning of GPCR Signaling

(2019) William M. Shaw et al.   CELL

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

(2019) Eric Chater-Diehl et al.   BMC Medical Genomics

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

(2019) Toshiyuki Yamamoto et al.   BRAIN & DEVELOPMENT

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

(2019) Futoshi Sekiguchi et al.   JOURNAL OF HUMAN GENETICS

A Genocentric Approach to Discovery of Mendelian Disorders

(2019) Adam W. Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

(2018) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes

(2018) Nazar Mashtalir et al.   CELL

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

(2018) Eline van der Sluijs et al.   GENETICS IN MEDICINE

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

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

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability

(2017) Felippe Borlot et al.   JAMA Neurology

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

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

(2015) Francesca Mari et al.   BRAIN & DEVELOPMENT

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

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 Genomic Birthday Paradox: How Much Is Enough?

(2015) Peter Krawitz et al.   HUMAN MUTATION

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

(2015) Nara Sobreira et al.   HUMAN MUTATION

Phenotype and genotype in Nicolaides-Baraitser syndrome

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

The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism

(2014) Geert Vandeweyer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

(2013) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

Structure of an actin-related subcomplex of the SWI/SNF chromatin remodeler

(2013) Heidi L. Schubert et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SWI/SNF complex in disorder

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

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

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

SWI/SNF and Asf1 Independently Promote Derepression of the DNA Damage Response Genes under Conditions of Replication Stress

(2011) Laura V. Minard et al.   PLoS One