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Tina Pesaran

Showing results (41-50 of 83) with videos related to

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JAMA Oncology|April 19, 2017
Associations Between Cancer Predisposition Testing Panel Genes and Breast CancerFergus J Couch, Hermela Shimelis, Chunling Hu, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Journal of the National Cancer Institute|November 4, 2020
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast CancerSiddhartha Yadav, Holly LaDuca, Eric C Polley, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Human Mutation|June 3, 2020
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelinesCristina Fortuno, Jessica Mester, Tina Pesaran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2017
Somatic TP53 variants frequently confound germ-line testing resultsJeffrey N Weitzel, Elizabeth C Chao, Bita Nehoray, et al.
Nature Communications|April 9, 2026
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classificationChunling Hu, Sounak Sahu, Wenan Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2019
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 patientsHolly LaDuca, Eric C Polley, Amal Yussuf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
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 cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
JAMA Oncology|April 19, 2017
Associations Between Cancer Predisposition Testing Panel Genes and Breast CancerFergus J Couch, Hermela Shimelis, Chunling Hu, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Journal of the National Cancer Institute|November 4, 2020
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast CancerSiddhartha Yadav, Holly LaDuca, Eric C Polley, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Human Mutation|June 3, 2020
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelinesCristina Fortuno, Jessica Mester, Tina Pesaran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2017
Somatic TP53 variants frequently confound germ-line testing resultsJeffrey N Weitzel, Elizabeth C Chao, Bita Nehoray, et al.
Nature Communications|April 9, 2026
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classificationChunling Hu, Sounak Sahu, Wenan Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2019
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 patientsHolly LaDuca, Eric C Polley, Amal Yussuf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
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 cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Pageof 9