Tina Pesaran to Genetic Testing
This is a "connection" page, showing publications Tina Pesaran has written about Genetic Testing.
Connection Strength
4.023
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The Evolution of Constitutional Sequence Variant Interpretation. Clin Lab Med. 2020 06; 40(2):135-148.
Score: 0.670
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280.
Score: 0.242
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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. Am J Hum Genet. 2024 01 04; 111(1):24-38.
Score: 0.214
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
Score: 0.211
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.208
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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. Am J Hum Genet. 2021 12 02; 108(12):2248-2258.
Score: 0.185
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Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. J Clin Oncol. 2021 12 10; 39(35):3918-3926.
Score: 0.184
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Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 2020 10; 248-249:11-17.
Score: 0.171
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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900.
Score: 0.160
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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: 0.158
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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: 0.150
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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: 0.147
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Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
Score: 0.141
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.121
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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
Score: 0.110
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
Score: 0.060
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Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484.
Score: 0.060
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426.
Score: 0.056
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 05; 111(9):2044-2058.
Score: 0.056
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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Hum Mol Genet. 2024 04 08; 33(8):724-732.
Score: 0.055
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593.
Score: 0.054
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. Am J Hum Genet. 2023 07 06; 110(7):1046-1067.
Score: 0.052
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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines. J Med Genet. 2023 06; 60(6):568-575.
Score: 0.050
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Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440.
Score: 0.045
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Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Hum Mutat. 2021 10; 42(10):1265-1278.
Score: 0.045
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236.
Score: 0.044
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. J Natl Cancer Inst. 2020 12 14; 112(12):1231-1241.
Score: 0.043
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Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53. Hum Mutat. 2020 03; 41(3):537-542.
Score: 0.041
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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. Genet Med. 2020 04; 22(4):701-708.
Score: 0.041
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.038
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A Bayesian framework for efficient and accurate variant prediction. PLoS One. 2018; 13(9):e0203553.
Score: 0.037
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524.
Score: 0.037
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Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical. Genet Med. 2019 03; 21(3):760-761.
Score: 0.037
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
Score: 0.035
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
Score: 0.033
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Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. J Clin Oncol. 2017 04 10; 35(11):1261-1262.
Score: 0.033