Tina Pesaran to Genome, Human
This is a "connection" page, showing publications Tina Pesaran has written about Genome, Human.
Connection Strength
0.934
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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: 0.210
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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: 0.153
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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: 0.153
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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: 0.151
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.123
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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: 0.056
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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: 0.054
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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: 0.034