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Tina Pesaran

Showing results (1-10 of 83) with videos related to

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Clinics in Laboratory Medicine|May 23, 2020
The Evolution of Constitutional Sequence Variant InterpretationJessica Mester, Tina Pesaran
The New England Journal of Medicine|October 1, 2015
ClinGen and Genetic TestingRachid Karam, Tina Pesaran, Elizabeth Chao
The Journal of Biological Chemistry|October 30, 2001
The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolismJack Phan, Tina Pesaran, Richard C Davis, et al.
JCO Precision Oncology|January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant ClassificationRachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 29, 2018
Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains criticalStephany Tandy-Connor, Kate Krempely, Tina Pesaran, et al.
HGG Advances|July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant EffectJohn Michael O Ranola, Carrie Horton, Tina Pesaran, et al.
Journal of Medical Genetics|August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resourcesCristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical dataFelicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
BMC Bioinformatics|September 6, 2024
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effectJohn Michael O Ranola, Carolyn Horton, Tina Pesaran, et al.
Pageof 9

Showing results (1-10 of 83) with videos related to

Sort By:
Pageof 9
Clinics in Laboratory Medicine|May 23, 2020
The Evolution of Constitutional Sequence Variant InterpretationJessica Mester, Tina Pesaran
The New England Journal of Medicine|October 1, 2015
ClinGen and Genetic TestingRachid Karam, Tina Pesaran, Elizabeth Chao
The Journal of Biological Chemistry|October 30, 2001
The Diet1 locus confers protection against hypercholesterolemia through enhanced bile acid metabolismJack Phan, Tina Pesaran, Richard C Davis, et al.
JCO Precision Oncology|January 20, 2022
RNA-Seq Analysis Is a Useful Tool in Variant ClassificationRachid Karam, Holly LaDuca, Marcy E Richardson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 29, 2018
Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains criticalStephany Tandy-Connor, Kate Krempely, Tina Pesaran, et al.
HGG Advances|July 23, 2025
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Cristina Fortuno, Marcy E Richardson, Tina Pesaran, et al.
Biorxiv : the Preprint Server for Biology|October 31, 2023
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant EffectJohn Michael O Ranola, Carrie Horton, Tina Pesaran, et al.
Journal of Medical Genetics|August 3, 2023
<i>CHEK2</i> is not a Li-Fraumeni syndrome gene: time to update public resourcesCristina Fortuno, Marcy Richardson, Tina Pesaran, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Classification of the canonical splice alteration <i>MUTYH</i> c.934-2A > G is likely benign based on RNA and clinical dataFelicia Hernandez, Blair R Conner, Marcy E Richardson, et al.
BMC Bioinformatics|September 6, 2024
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effectJohn Michael O Ranola, Carolyn Horton, Tina Pesaran, et al.
Pageof 9