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

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

(2019) Hiromi Aoi et al.   JOURNAL OF HUMAN GENETICS

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

(2018) Georgia Vasileiou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of copy number variations in epilepsy using exome data

(2018) N. Tsuchida et al.   CLINICAL GENETICS

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

(2018) Till Holsten et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features

(2018) Futoshi Sekiguchi et al.   JOURNAL OF HUMAN GENETICS

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

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

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

(2018) Hefan Miao et al.   HEREDITAS

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

(2018) Alba Sanchis-Juan et al.   Genome Medicine

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Overexpression of Derlin 3 is associated with malignant phenotype of breast cancer cells

(2017) Masahiro Shibata et al.   ONCOLOGY REPORTS

SWI/SNF Infobase—An exclusive information portal for SWI/SNF remodeling complex subunits

(2017) Udayakumar Mani et al.   PLoS One

Loss of Snf5 Induces Formation of an Aberrant SWI/SNF Complex

(2017) Payel Sen et al.   Cell Reports

Coffin-Siris syndrome and cardiac anomaly with a novel SOX 11 mutation

(2017) Nobuhiko Okamoto et al.   CONGENITAL ANOMALIES

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

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

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases

(2016) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical features ofSMARCA2duplication overlap with Coffin-Siris syndrome

(2016) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

(2016) Cyril Mignot et al.   BRAIN

ATP-dependent chromatin remodeling during mammalian development

(2016) Swetansu K. Hota et al.   DEVELOPMENT

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

(2016) Arezu Jahani-Asl et al.   NEUROBIOLOGY OF DISEASE

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

(2016) Aisha Al-Shamsi et al.   Orphanet Journal of Rare Diseases

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

(2015) Yongguo Yu et al.   BMC GENOMICS

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome

(2014) Samantha S. Vergano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

(2014) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease

(2013) Ariana Bevilacqua et al.   CARDIOVASCULAR PATHOLOGY

Coffin-Siris syndrome is a SWI/SNF complex disorder

(2013) Y. Tsurusaki et al.   CLINICAL 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

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

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

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

(2013) Christiane Zweier et al.   JOURNAL OF MEDICAL GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

(2012) Samantha A. Schrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

Activator-binding domains of the SWI/SNF chromatin remodeling complex characterizedin vitroare required for its recruitment to promotersin vivo

(2009) Monica E. Ferreira et al.   FEBS Journal

Börjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

(2009) Marie Mangelsdorf et al.   JOURNAL OF CHILD NEUROLOGY