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Tina Pesaran

Showing results (61-70 of 83) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) DiseaseDeborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
Journal of the National Cancer Institute|August 13, 2018
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel TestingHermela Shimelis, Holly LaDuca, Chunling Hu, et al.
American Journal of Human Genetics|February 28, 2024
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domainChunling Hu, Huaizhi Huang, Jie Na, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Journal of Medical Genetics|March 21, 2019
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reportIrene Lopez-Perolio, Raphaël Leman, Raquel Behar, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) DiseaseDeborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
Journal of the National Cancer Institute|August 13, 2018
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel TestingHermela Shimelis, Holly LaDuca, Chunling Hu, et al.
American Journal of Human Genetics|February 28, 2024
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domainChunling Hu, Huaizhi Huang, Jie Na, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.
American Journal of Human Genetics|October 2, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUSXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert PanelIsabel Spier, Xiaoyu Yin, Marcy Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Journal of Medical Genetics|March 21, 2019
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reportIrene Lopez-Perolio, Raphaël Leman, Raquel Behar, et al.
Pageof 9