Associated Papers
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.
Canson DM et al.
Genome Research, 2025
40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary
Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series.
Hidaka M et al.
Bmc Research Notes, 2022
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R et al.
Jama Network Open, 2019
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
Finkelman BS et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2012
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