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

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

Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

(2012) Marina Michelson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncatingOFD1mutations in male patients

(2012) Y Tsurusaki et al.   CLINICAL GENETICS

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

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

(2011) C Halgren et al.   CLINICAL GENETICS

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

(2008) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS