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

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

(2015) Bo Yuan et al.   JOURNAL OF CLINICAL INVESTIGATION

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

(2015) Irina Pulyakhina et al.   NUCLEIC ACIDS RESEARCH

Alternative mRNA transcription, processing, and translation: insights from RNA sequencing

(2015) Eleonora de Klerk et al.   TRENDS IN GENETICS

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

Missed threads. The impact of pre-mRNA splicing defects on clinical practice

(2009) Diana Baralle et al.   EMBO REPORTS

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

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