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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 28, 2024
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2024
Response to Kiel and Kozaric
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2024
Response to Wei et al
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2024
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
Jennifer J Johnston, Marie-Luise Brennan, Bailey Radenbaugh, et al.
Human Molecular Genetics
|
July 18, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 28, 2024
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2024
Response to Kiel and Kozaric
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2024
Response to Wei et al
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2024
Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants
Zara Wermers, Seeley Yoo, Bailey Radenbaugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort
Jennifer J Johnston, Marie-Luise Brennan, Bailey Radenbaugh, et al.
Human Molecular Genetics
|
July 18, 2022
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
Jennifer J Johnston, Robert T Dirksen, Thierry Girard, et al.
Page
of 1