De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-07-22
DOI
10.1038/s41436-020-0898-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now