Jennifer J Johnston
6PUBLICATIONS
6CO-AUTHORS
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Publications (6)
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|Apr 07, 2025
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.Evan Z Ying, Amber Douglass, Marwan A Hawari
|Aug 22, 2023
Genome-wide identification of dominant polyadenylation hexamers for use in variant classification.Henoke K Shiferaw, Celine S Hong, David N Cooper
|Jul 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
|Mar 26, 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.Jennifer J Johnston, Robert T Dirksen, Thierry Girard
|Mar 08, 2019
NAA10 polyadenylation signal variants cause syndromic microphthalmia.Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou
|Aug 19, 2016
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.David Ng, Celine S Hong, Larry N Singh
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