Human Splicing Finder: an online bioinformatics tool to predict splicing signals

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

(2009) M Attanasio et al.   CLINICAL GENETICS

Genetic regulation of MUC1 alternative splicing in human tissues

(2008) W Ng et al.   BRITISH JOURNAL OF CANCER

Unclassified variants identified inBRCA1exon 11: Consequences on splicing

(2008) Olga Anczuków et al.   GENES CHROMOSOMES & CANCER

TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations

(2008) Melissa Yana Frédéric 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

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

(2008) Annemieke Aartsma-Rus et al.   MOLECULAR THERAPY

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

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION