Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Expression of human BRCA1Δ17–19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response

(2013) Jan Sevcik et al.   CELLULAR SIGNALLING

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

(2013) P. J. Whiley et al.   CLINICAL CHEMISTRY

Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31BRCA2Genetic Variants

(2013) Gorka Ruiz de Garibay et al.   HUMAN MUTATION

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

(2013) Logan C. Walker et al.   HUMAN MUTATION

Alternative splicing: a pivotal step between eukaryotic transcription and translation

(2013) Alberto R. Kornblihtt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants

(2013) P. Bouwman et al.   Cancer Discovery

BRCA1exon 11 alternative splicing, multiple functions and the association with cancer

(2012) Claudia Tammaro et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells

(2012) Jan Sevcik et al.   CELLULAR SIGNALLING

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

(2012) Claude Houdayer et al.   HUMAN MUTATION

Tissue-Specific Splicing of Disordered Segments that Embed Binding Motifs Rewires Protein Interaction Networks

(2012) Marija Buljan et al.   MOLECULAR CELL

Landscape of transcription in human cells

(2012) Sarah Djebali et al.   NATURE

BRCA1-IRIS Overexpression Promotes Formation of Aggressive Breast Cancers

(2012) Yoshiko Shimizu et al.   PLoS One

The importance of identifying alternative splicing in vertebrate genome annotation

(2012) Adam Frankish et al.   Database-The Journal of Biological Databases and Curation

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

(2011) Rita Dias Brandão et al.   BREAST CANCER RESEARCH AND TREATMENT

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

The Origins, Evolution, and Functional Potential of Alternative Splicing in Vertebrates

(2011) J. M. Mudge et al.   MOLECULAR BIOLOGY AND EVOLUTION

Targeted RNA sequencing reveals the deep complexity of the human transcriptome

(2011) Tim R Mercer et al.   NATURE BIOTECHNOLOGY

Cloning and characterization of a new BRCA1 variant: A role for BRCT domains in apoptosis

(2010) Meijia Gu et al.   CANCER LETTERS

The adaptive significance of unproductive alternative splicing in primates

(2010) A. Skandalis et al.   RNA

Unfoldomics of human diseases: linking protein intrinsic disorder with diseases

(2009) Vladimir N Uversky et al.   BMC GENOMICS

Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study

(2009) V. Dosil et al.   CLINICAL CHEMISTRY

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Stochastic noise in splicing machinery

(2009) Eugene Melamud et al.   NUCLEIC ACIDS RESEARCH

Prediction and assessment of splicing alterations: implications for clinical testing

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

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Intrinsic disorder in scaffold proteins: Getting more from less

(2008) Marc S. Cortese et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Origin of introns by ‘intronization’ of exonic sequences

(2008) Manuel Irimia et al.   TRENDS IN GENETICS