Related references
Note: Only part of the references are listed.Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations
Mara Colombo et al.
PLOS ONE (2013)
Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing
Kian Huat Lim et al.
BIOINFORMATICS (2012)
Guidelines for Splicing Analysis in Molecular Diagnosis Derived from a Set of 327 Combined In Silico/In Vitro Studies on BRCA1 and BRCA2 Variants
Claude Houdayer et al.
HUMAN MUTATION (2012)
Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites
Kirsten Faber et al.
BMC BIOINFORMATICS (2011)
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
Jean Christophe Thery et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Loss of exon identity is a common mechanism of human inherited disease
Timothy Sterne-Weiler et al.
GENOME RESEARCH (2011)
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
Kian Huat Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Design of Prospective Meta-Analyses of Genome-Wide Association Studies From 5 Cohorts
Bruce M. Psaty et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
Missed threads The impact of pre-mRNA splicing defects on clinical practice
Diana Baralle et al.
EMBO REPORTS (2009)
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping
Petr Divina et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Intronic Variants in BRCA1 and BRCA2 That Affect RNA Splicing Can Be Reliably Selected by Splice-Site Prediction Programs
Maaike P. G. Vreeswijk et al.
HUMAN MUTATION (2009)
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Oystein L. Holla et al.
MOLECULAR GENETICS AND METABOLISM (2009)
SROOGLE: webserver for integrative, user-friendly visualization of splicing signals
Schraga Schwartz et al.
NUCLEIC ACIDS RESEARCH (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
Evaluation of in silico splice tools for decision-making in molecular diagnosis
Claude Houdayer et al.
HUMAN MUTATION (2008)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
SplicePort - An interactive splice-site analysis tool
Rezarta Islamaj Dogan et al.
NUCLEIC ACIDS RESEARCH (2007)
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
L Cartegni et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Automated splicing mutation analysis by information theory
VK Nalla et al.
HUMAN MUTATION (2005)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus
V Brendel et al.
BIOINFORMATICS (2004)
Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths
L Eng et al.
HUMAN MUTATION (2004)
A novel approach to describe a U1 snRNA binding site
M Freund et al.
NUCLEIC ACIDS RESEARCH (2003)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
L Cartegni et al.
NATURE REVIEWS GENETICS (2002)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)