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

Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH

(2010) Simon A. Joosse et al.   BREAST CANCER RESEARCH AND TREATMENT

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

(2010) Katerina Homolova et al.   HUMAN MUTATION

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

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

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

(2009) Thomas Rio Frio et al.   HUMAN MUTATION

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

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

Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007

(2008) Gordon F. Schwartz et al.   CANCER

Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition

(2008) Yang Yu et al.   CELL

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

(2008) David E. Goldgar et al.   HUMAN MUTATION

Assessment of functional effects of unclassified genetic variants

(2008) Fergus J. Couch et al.   HUMAN MUTATION

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

(2008) Sean V. Tavtigian 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

A deep intronic mutation inFGBcreates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment

(2008) Ryan L. Davis 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

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

(2008) Amanda B. Spurdle et al.   JOURNAL OF CLINICAL ONCOLOGY

Touchdown PCR for increased specificity and sensitivity in PCR amplification

(2008) Darren J Korbie et al.   Nature Protocols