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Tina Pesaran to Humans

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This is a "connection" page, showing publications Tina Pesaran has written about Humans.
Tina Pesaran
Connection Strength
1.263
Humans
  1. The Evolution of Constitutional Sequence Variant Interpretation. Clin Lab Med. 2020 06; 40(2):135-148.
    View in: PubMed
    Score: 0.078
  2. 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.
    View in: PubMed
    Score: 0.028
  3. 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.
    View in: PubMed
    Score: 0.028
  4. Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53. HGG Adv. 2025 Oct 09; 6(4):100484.
    View in: PubMed
    Score: 0.028
  5. Association of gene variant type and location with breast cancer risk in the general population. Ann Oncol. 2025 Aug; 36(8):954-963.
    View in: PubMed
    Score: 0.028
  6. Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast. Clin Cancer Res. 2025 Jan 06; 31(1):130-138.
    View in: PubMed
    Score: 0.027
  7. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443.
    View in: PubMed
    Score: 0.026
  8. 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.
    View in: PubMed
    Score: 0.026
  9. Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect. BMC Bioinformatics. 2024 Sep 06; 25(1):295.
    View in: PubMed
    Score: 0.026
  10. 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.
    View in: PubMed
    Score: 0.026
  11. 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.
    View in: PubMed
    Score: 0.026
  12. 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.
    View in: PubMed
    Score: 0.025
  13. 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.
    View in: PubMed
    Score: 0.025
  14. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genet Med. 2024 03; 26(3):101036.
    View in: PubMed
    Score: 0.025
  15. CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. J Med Genet. 2023 11 27; 60(12):1215-1217.
    View in: PubMed
    Score: 0.025
  16. 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.
    View in: PubMed
    Score: 0.025
  17. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571.
    View in: PubMed
    Score: 0.024
  18. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
    View in: PubMed
    Score: 0.024
  19. 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.
    View in: PubMed
    Score: 0.024
  20. 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.
    View in: PubMed
    Score: 0.023
  21. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. Hum Mutat. 2022 12; 43(12):1921-1944.
    View in: PubMed
    Score: 0.023
  22. 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).
    View in: PubMed
    Score: 0.022
  23. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD. Genet Med. 2022 01; 24(1):41-50.
    View in: PubMed
    Score: 0.022
  24. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity. Genet Med. 2022 03; 24(3):673-680.
    View in: PubMed
    Score: 0.022
  25. 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.
    View in: PubMed
    Score: 0.022
  26. 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.
    View in: PubMed
    Score: 0.022
  27. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. J Natl Cancer Inst. 2021 10 01; 113(10):1429-1433.
    View in: PubMed
    Score: 0.022
  28. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021 10; 42(10):1351-1361.
    View in: PubMed
    Score: 0.021
  29. Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 11 01; 39(31):3430-3440.
    View in: PubMed
    Score: 0.021
  30. 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.
    View in: PubMed
    Score: 0.021
  31. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 03 04; 108(3):458-468.
    View in: PubMed
    Score: 0.021
  32. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236.
    View in: PubMed
    Score: 0.020
  33. 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.
    View in: PubMed
    Score: 0.020
  34. 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.
    View in: PubMed
    Score: 0.020
  35. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. PLoS One. 2020; 15(8):e0233673.
    View in: PubMed
    Score: 0.020
  36. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat. 2020 09; 41(9):1555-1562.
    View in: PubMed
    Score: 0.020
  37. 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.
    View in: PubMed
    Score: 0.019
  38. 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.
    View in: PubMed
    Score: 0.019
  39. Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 10 02; 2(10):e1913900.
    View in: PubMed
    Score: 0.019
  40. 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.
    View in: PubMed
    Score: 0.019
  41. Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69.
    View in: PubMed
    Score: 0.019
  42. p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients. Cancer Genet. 2019 06; 235-236:21-27.
    View in: PubMed
    Score: 0.018
  43. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. J Med Genet. 2019 07; 56(7):453-460.
    View in: PubMed
    Score: 0.018
  44. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
    View in: PubMed
    Score: 0.018
  45. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
    View in: PubMed
    Score: 0.018
  46. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018 11; 39(11):1517-1524.
    View in: PubMed
    Score: 0.017
  47. Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J Natl Cancer Inst. 2018 08 01; 110(8):855-862.
    View in: PubMed
    Score: 0.017
  48. 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.
    View in: PubMed
    Score: 0.017
  49. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Hum Mutat. 2018 08; 39(8):1061-1069.
    View in: PubMed
    Score: 0.017
  50. Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
    View in: PubMed
    Score: 0.016
  51. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol. 2017 Sep 01; 3(9):1190-1196.
    View in: PubMed
    Score: 0.016
  52. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
    View in: PubMed
    Score: 0.016
  53. Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. J Clin Oncol. 2017 04 10; 35(11):1261-1262.
    View in: PubMed
    Score: 0.016
  54. 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.
    View in: PubMed
    Score: 0.015
  55. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
    View in: PubMed
    Score: 0.014
  56. Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4. J Mol Diagn. 2015 Sep; 17(5):576-82.
    View in: PubMed
    Score: 0.014
  57. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
    View in: PubMed
    Score: 0.013
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.