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Douglas M Fowler

Showing results (101-110 of 127) with videos related to

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Biorxiv : the Preprint Server for Biology|August 20, 2025
Functional evidence for <i>G6PD</i> variant classification from mutational scanningRenee C Geck, Melinda K Wheelock, Rachel L Powell, et al.
American Journal of Human Genetics|June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classificationRehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classificationRehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Circulation. Genomic and Precision Medicine|February 16, 2024
Multiplexed Functional Assessments of <i>MYH7</i> Variants in Human CardiomyocytesClayton E Friedman, Shawn Fayer, Sriram Pendyala, et al.
Biorxiv : the Preprint Server for Biology|February 20, 2025
Multiplex, multimodal mapping of variant effects in secreted proteinsNicholas A Popp, Rachel L Powell, Melinda K Wheelock, et al.
Nature Structural & Molecular Biology|June 13, 2025
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEPNicholas A Popp, Rachel L Powell, Melinda K Wheelock, et al.
Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.
American Journal of Human Genetics|December 6, 2024
A missense variant effect map for the human tumor-suppressor protein CHK2Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
Defining and Reducing Variant Classification DisparitiesMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine|December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populationsMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Pageof 13

Showing results (101-110 of 127) with videos related to

Sort By:
Pageof 13
Biorxiv : the Preprint Server for Biology|August 20, 2025
Functional evidence for <i>G6PD</i> variant classification from mutational scanningRenee C Geck, Melinda K Wheelock, Rachel L Powell, et al.
American Journal of Human Genetics|June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classificationRehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classificationRehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Circulation. Genomic and Precision Medicine|February 16, 2024
Multiplexed Functional Assessments of <i>MYH7</i> Variants in Human CardiomyocytesClayton E Friedman, Shawn Fayer, Sriram Pendyala, et al.
Biorxiv : the Preprint Server for Biology|February 20, 2025
Multiplex, multimodal mapping of variant effects in secreted proteinsNicholas A Popp, Rachel L Powell, Melinda K Wheelock, et al.
Nature Structural & Molecular Biology|June 13, 2025
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEPNicholas A Popp, Rachel L Powell, Melinda K Wheelock, et al.
Nature Genetics|May 23, 2018
Multiplex assessment of protein variant abundance by massively parallel sequencingKenneth A Matreyek, Lea M Starita, Jason J Stephany, et al.
American Journal of Human Genetics|December 6, 2024
A missense variant effect map for the human tumor-suppressor protein CHK2Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
Defining and Reducing Variant Classification DisparitiesMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine|December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populationsMoez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Pageof 13