Clinical features ofSMARCA2duplication overlap with Coffin-Siris syndrome

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Duplication 9p and their implication to phenotype

(2014) Roberta Santos Guilherme et al.   BMC Medical Genetics

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

(2014) Y. Liu et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

(2014) Cas Simons et al.   NATURE GENETICS

De novo SOX11 mutations cause Coffin–Siris syndrome

(2014) Yoshinori Tsurusaki et al.   Nature Communications

The BAF Complex Interacts with Pax6 in Adult Neural Progenitors to Establish a Neurogenic Cross-Regulatory Transcriptional Network

(2013) Jovica Ninkovic et al.   Cell Stem Cell

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

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

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

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

(2011) Alex S Nord et al.   BMC GENOMICS

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

(2011) Elizabeth J Bhoj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

(2011) Lisenka E. L. M. Vissers et al.   PLoS Genetics

The Coffin-Siris syndrome: Report of a family and further delineation

(2010) M. Haspeslagh et al.   CLINICAL GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS