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Tina Pesaran

Showing results (51-60 of 83) with videos related to

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American Journal of Human Genetics|September 24, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>ATM</i> sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
JAMA Network Open|October 24, 2019
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary CancerRachid Karam, Blair Conner, Holly LaDuca, et al.
Biorxiv : the Preprint Server for Biology|January 3, 2024
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variantsHuaizhi Huang, Chunling Hu, Jie Na, et al.
American Journal of Human Genetics|September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
Journal of Medical Genetics|January 5, 2023
Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelinesXi Luo, Jamie L Maciaszek, Bryony A Thompson, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Nature|January 8, 2025
Functional evaluation and clinical classification of BRCA2 variantsHuaizhi Huang, Chunling Hu, Jie Na, et al.
Pageof 9

Showing results (51-60 of 83) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|September 24, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>ATM</i> sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
JAMA Network Open|October 24, 2019
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary CancerRachid Karam, Blair Conner, Holly LaDuca, et al.
Biorxiv : the Preprint Server for Biology|January 3, 2024
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variantsHuaizhi Huang, Chunling Hu, Jie Na, et al.
American Journal of Human Genetics|September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
Journal of Medical Genetics|January 5, 2023
Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelinesXi Luo, Jamie L Maciaszek, Bryony A Thompson, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Nature|January 8, 2025
Functional evaluation and clinical classification of BRCA2 variantsHuaizhi Huang, Chunling Hu, Jie Na, et al.
Pageof 9