Tina Pesaran to Mutation
This is a "connection" page, showing publications Tina Pesaran has written about Mutation.
Connection Strength
0.397
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 06 01; 25(11):2256-2268.
Score: 0.125
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Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data. Cold Spring Harb Mol Case Stud. 2022 01; 8(1).
Score: 0.047
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A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med. 2020 02; 22(2):407-415.
Score: 0.040
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. J Med Genet. 2019 07; 56(7):453-460.
Score: 0.039
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
Score: 0.038
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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018 08 01; 110(8):855-862.
Score: 0.037
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DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. Genet Med. 2019 03; 21(3):683-693.
Score: 0.037
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Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
Score: 0.035