Observation of Cleft Palate in an Individual with SOX11 Mutation

Duplication 2p25 in a child with clinical features of CHARGE syndrome

(2016) Ethan D. Sperry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ablation of theSox11Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence

(2016) Huarong Huang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deletions and de novo mutations ofSOX11are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

(2015) Annmarie Hempel et al.   JOURNAL OF MEDICAL GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

TheARID1Bphenotype: What we have learned so far

(2014) Gijs W.E. Santen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

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

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Mouse genetic models of cleft lip with or without cleft palate

(2008) Diana M. Juriloff et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY