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

Short Report European Journal of Human Genetics

Arie van Haeringen's research works Leiden University, Leiden (LEI) and other places

Classification of the paired-end reads. (A) 'Mapping distance' reflects

Frontiers A Bioinformatics-Based Alternative mRNA Splicing Code that May Explain Some Disease Mutations Is Conserved in Animals

Volume 24 Issue 11, November 2016

The effect of orientation of the cosmid insert. +, cosmid insert in

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

IJMS, Free Full-Text

Molecular and genetic dissection of recursive splicing

The U1 spliceosomal RNA is recurrently mutated in multiple cancers

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data