Author

Jennifer J. Johnston

National Institutes of HealthORCID 0000-0002-1012-6358Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Approach:statistical model· 3 Research Focus:variant effect prediction· 3 Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Leslie G. BieseckeriD· 3 shared Henry R. RosenbergiD· 2 shared James L. Weber· 2 shared Kathryn M. StowelliD· 2 shared Louis Saddic· 2 shared Nyamkhishig SambuughiniD· 2 shared Philip Morgan HopkinsiD· 2 shared Richa SaxenaiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Leslie G. BieseckerORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Specification of frequency criteria for secondary findings genes to improve variant classification concordance

Jennifer J. Johnston, Kristy Lee, Deborah Ritter, Steven M. Harrison, Leslie G. Biesecker

The paper establishes frequency criteria for secondary findings genes to improve variant classification consistency by setting disease allele frequency thresholds for 58 monogenic disease entities.

Genetics in Medicine · Mar 14, 2026Peer-reviewedGenetics

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, Philip Morgan Hopkins, Natalia Kraeva, Ognoon Mungunsukh, K. Bailey Radenbaugh, Sheila Riazi, Rachel L. Robinson, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn M. Stowell, James L. Weber, , Leslie G. Biesecker

The paper updates ACMG/AMP criteria for RYR1-related MHS and classifies 251 variants, finding that many VUS classifications lack sufficient evidence and suggesting functional studies are needed.

Human Molecular Genetics · Jul 15, 2022Peer-reviewedGenetics

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility

Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip Morgan Hopkins, Sheila Riazi, Louis Saddic, Nyamkhishig Sambuughin, Richa Saxena, Kathryn M. Stowell, James L. Weber, Henry R. Rosenberg, Leslie G. Biesecker

The paper develops and validates ACMG/AMP criteria for assessing RYR1 variant pathogenicity in malignant hyperthermia, using quantitative calibration and expert panel evaluation.

Genetics in Medicine · Mar 25, 2021Peer-reviewedGenetics