Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Is histone acetylation the most important physiological function for CBP and p300?

(2016) David C. Bedford et al.   Aging-US

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

(2013) Elizabeth Park et al.   NEUROMOLECULAR MEDICINE

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

(2011) J P Lopez-Atalaya et al.   JOURNAL OF MEDICAL GENETICS

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai 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

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

(2009) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

(2009) Patricia Foley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

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