CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

(2016) Johannes G Dauwerse et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

(2015) Bita Hashemi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

(2015) Fátima Torres et al.   JOURNAL OF MEDICAL GENETICS

Growth charts for individuals with Rubinstein-Taybi syndrome

(2014) Lex Beets et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Inheritance and variable expression in Rubinstein-Taybi syndrome

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rubinstein–Taybi syndrome (CREBBP, EP300)

(2010) Martine van Belzen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

(2010) Neeti Sharma et al.   JOURNAL OF BIOSCIENCES

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

(2008) E.K. Schorry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A