Coffin-Siris syndrome is a SWI/SNF complex disorder

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

From neural development to cognition: unexpected roles for chromatin

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

The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases

(2013) O A Romero et al.   ONCOGENE

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SWI/SNF gene variants and glioma risk and outcome

(2012) Ernest K. Amankwah et al.   Cancer Epidemiology

SWI/SNF complex in disorder

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

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

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

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

Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome

(2010) Reinhard Schneppenheim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

(2008) Marco Castori et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY