Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel FRMD7 Splice Mutation c.1050 +5 G>A

(2011) Arif O. Khan   ARCHIVES OF OPHTHALMOLOGY

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

(2011) Mads Thomassen et al.   BREAST CANCER RESEARCH AND TREATMENT

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

(2011) Jean Christophe Théry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

(2011) Phillip J. Whiley et al.   HUMAN MUTATION

Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever

(2011) Yumi Tone et al.   Modern Rheumatology

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

(2010) Logan C. Walker et al.   HUMAN MUTATION

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

(2010) Virginie Caux-Moncoutier et al.   HUMAN MUTATION

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

(2010) Thomas Koed Doktor et al.   HUMAN MUTATION

Genome-Wide Association between Branch Point Properties and Alternative Splicing

(2010) André Corvelo et al.   PLoS Computational Biology

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

(2010) Alexandre Hinzpeter et al.   PLoS Genetics

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

Virtual Screening with Support Vector Machines and Structure Kernels

(2009) Pierre Mahe et al.   COMBINATORIAL CHEMISTRY & HIGH THROUGHPUT SCREENING

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

(2009) Virginie Caux-Moncoutier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

(2009) Øystein L. Holla et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Unclassified variants identified inBRCA1exon 11: Consequences on splicing

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

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

(2008) Robert M.W. Hofstra 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

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs

(2008) Maaike P.G. Vreeswijk 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