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Nature Reviews. Genetics
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July 21, 2025
Multiplexed assays of variant effect for clinical variant interpretation
Abbye E McEwen, Malvika Tejura, Shawn Fayer, et al.
American Journal of Human Genetics
|
August 22, 2024
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
Malvika Tejura, Shawn Fayer, Abbye E McEwen, et al.
Nucleic Acids Research
|
April 27, 2021
DDX3 depletion represses translation of mRNAs with complex 5' UTRs
Lorenzo Calviello, Srivats Venkataramanan, Karol J Rogowski, et al.
Biorxiv : the Preprint Server for Biology
|
July 14, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classification
Daniel Zeiberg, Malvika Tejura, Abbye E McEwen, et al.
Genome Medicine
|
July 10, 2026
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 3, 2025
MaveMD: A functional data resource for genomic medicine
Abbye E McEwen, Jeremy Stone, Malvika Tejura, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Saturation genome editing of <i>BARD1</i> resolves VUS and provides insight into BRCA1-BARD1 tumor suppression
Ivan Woo, Silvia Casadei, Matthew W Snyder, et al.
Biorxiv : the Preprint Server for Biology
|
February 6, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Nature Communications
|
July 9, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Biorxiv : the Preprint Server for Biology
|
June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants
Silvia Casadei, Matthew W Snyder, Ivan Woo, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Nature Reviews. Genetics
|
July 21, 2025
Multiplexed assays of variant effect for clinical variant interpretation
Abbye E McEwen, Malvika Tejura, Shawn Fayer, et al.
American Journal of Human Genetics
|
August 22, 2024
Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes
Malvika Tejura, Shawn Fayer, Abbye E McEwen, et al.
Nucleic Acids Research
|
April 27, 2021
DDX3 depletion represses translation of mRNAs with complex 5' UTRs
Lorenzo Calviello, Srivats Venkataramanan, Karol J Rogowski, et al.
Biorxiv : the Preprint Server for Biology
|
July 14, 2025
Gene-based calibration of high-throughput functional assays for clinical variant classification
Daniel Zeiberg, Malvika Tejura, Abbye E McEwen, et al.
Genome Medicine
|
July 10, 2026
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 3, 2025
MaveMD: A functional data resource for genomic medicine
Abbye E McEwen, Jeremy Stone, Malvika Tejura, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Saturation genome editing of <i>BARD1</i> resolves VUS and provides insight into BRCA1-BARD1 tumor suppression
Ivan Woo, Silvia Casadei, Matthew W Snyder, et al.
Biorxiv : the Preprint Server for Biology
|
February 6, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Nature Communications
|
July 9, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Biorxiv : the Preprint Server for Biology
|
June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variants
Silvia Casadei, Matthew W Snyder, Ivan Woo, et al.
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of 2