Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts

(2010) Phillip J Whiley et al.   BMC Medical Genetics

A missense variant within BRCA1 exon 23 causing exon skipping

(2010) Etienne Rouleau et al.   CANCER GENETICS AND CYTOGENETICS

A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

(2010) D. J. Sanz et al.   CLINICAL CANCER RESEARCH

Allele-specific recognition of the 3′ splice site of INS intron 1

(2010) Jana Kralovicova et al.   HUMAN GENETICS

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

(2010) P. Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans

(2009) F. Piva et al.   BIOINFORMATICS

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding

(2009) Stefania Millevoi et al.   BREAST CANCER RESEARCH AND TREATMENT

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

(2009) Petr Divina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transposable elements in disease-associated cryptic exons

(2009) Igor Vorechovsky   HUMAN GENETICS

SR Proteins in Vertical Integration of Gene Expression from Transcription to RNA Processing to Translation

(2009) Xiang-Yang Zhong et al.   MOLECULAR CELL

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

The pathological splicing mutation c.6792C > G inNF1exon 37 causes a change of tenancy between antagonistic splicing factors

(2008) Natasa Skoko et al.   FEBS LETTERS

Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

(2008) Eva Pros et al.   HUMAN MUTATION

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

(2008) Isabelle Tournier et al.   HUMAN MUTATION

RNA landscape of evolution for optimal exon and intron discrimination

(2008) C. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA