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Connection

Tina Pesaran to Genetic Variation

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This is a "connection" page, showing publications Tina Pesaran has written about Genetic Variation.
Tina Pesaran
Connection Strength
3.403
Genetic Variation
  1. The Evolution of Constitutional Sequence Variant Interpretation. Clin Lab Med. 2020 06; 40(2):135-148.
    View in: PubMed
    Score: 0.670
  2. 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: 0.239
  3. 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: 0.226
  4. 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: 0.224
  5. 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: 0.219
  6. 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: 0.214
  7. 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: 0.213
  8. 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: 0.207
  9. 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: 0.199
  10. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 03; 42(3):223-236.
    View in: PubMed
    Score: 0.174
  11. 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: 0.163
  12. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
    View in: PubMed
    Score: 0.121
  13. 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: 0.060
  14. 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: 0.056
  15. 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: 0.056
  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: 0.053
  17. 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: 0.044
  18. 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: 0.042
  19. 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: 0.039
  20. 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: 0.038
  21. 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: 0.038
  22. Somatic TP53 variants frequently confound germ-line testing results. Genet Med. 2018 08; 20(8):809-816.
    View in: PubMed
    Score: 0.035
  23. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
    View in: PubMed
    Score: 0.033
  24. 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: 0.027
  25. The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolism. J Biol Chem. 2002 Jan 04; 277(1):469-77.
    View in: PubMed
    Score: 0.012
Connection Strength

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