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Publications by Sean Tavtigian
A Review of a Multifactorial Probability-Based Model for Classification of BRCA1 and BRCA2 Variants of Uncertain Significance (VUS)
Human Mutation
Genetics
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Functional Analysis of BRCA1 Missense Variants of Uncertain Significance in Japanese Breast Cancer Families
Journal of Human Genetics
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Genomic Rearrangements in BRCA1 and BRCA2: A Literature Review
Genetics and Molecular Biology
Genetics
Molecular Biology
A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants
Cancer Discovery
Oncology
Germline BRCA1 and BRCA2 Deleterious Mutations and Variants of Unknown Clinical Significance Associated With Breast/Ovarian Cancer: A Report From North India
Cancer Management and Research
Oncology
Brca1/Brca2
A New Bioinformatics Tool to Help Assess the Significance of BRCA1 Variants
Human Genomics
Molecular Medicine
Drug Discovery
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Molecular Biology
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
Circulation. Genomic and precision medicine
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Cardiovascular Medicine
Cardiology
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
Frontiers in Oncology
Cancer Research
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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
Human Mutation
Genetics