Growth charts for individuals with Coffin‐Siris syndrome

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations

(2018) Elizabeth A. Mannino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

(2018) Eline van der Sluijs et al.   GENETICS IN 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

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

(2017) Cemre Celen et al.   eLife

The Biology of Stature

(2016) Youn Hee Jee et al.   JOURNAL OF PEDIATRICS

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

(2015) Yongguo Yu et al.   BMC GENOMICS

Short and tall stature: a new paradigm emerges

(2015) Jeffrey Baron et al.   Nature Reviews Endocrinology

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

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

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A

(2014) Tomoki Kosho 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

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

From neural development to cognition: unexpected roles for chromatin

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

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

Spatial and temporal regulation of gene expression in the mammalian growth plate

(2010) Julian C.K. Lui et al.   BONE

Chromatin remodelling during development

(2010) Lena Ho et al.   NATURE

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

(2008) Anwar Baban et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An Extensive Genetic Program Occurring during Postnatal Growth in Multiple Tissues

(2008) Gabriela P. Finkielstain et al.   ENDOCRINOLOGY