Jennifer J. Johnston

Also affiliated with National Human Genome Research Institute

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 18 papers. Top paper: “Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations”.

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.06.009

N/A

1.3DataRank · unranked

67 citations

Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael Setzer +95 more

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

UNC Libraries(2020)10.17615/nh7z-zg10

N/A

0DataRank · unranked

1 citations

Kathryn F. Peters, Lewis B. Holmes, David J. Aughton, Laura Mazzanti, Kathleen A. Leppig +27 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.29.402768

N/A

0DataRank · unranked

3 citations

Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip M. Hopkins, Sheila Riazi +8 more

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Genetics in Medicine(2021)10.1038/s41436-021-01125-w

N/A

0DataRank · unranked

84 citations

Robert T. Dirksen, Thierry Girard, Stephen G. Gonsalves, Philip M. Hopkins, Sheila Riazi +8 more

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Genetics in Medicine(2021)10.1038/s41436-021-01211-z

N/A

0DataRank · unranked

59 citations

Nicole R. Bender, Michael T. Zimmermann, Jonathan W. Heusel, Meagan Corliss, Michael Evenson +17 more

The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort

Genetics in Medicine(2021)10.1016/j.gim.2021.11.012

N/A

0DataRank · unranked

17 citations

Marie‐Luise Brennan, Bailey Radenbaugh, Seeley Yoo, Sophia M. Hernandez, Katie L. Lewis +4 more

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Ophthalmic Genetics(2021)10.1080/13816810.2021.1888127

N/A

0DataRank · unranked

4 citations

Robert B. Hufnagel, Bin Guan, Delphine Blain, Julie C. Sapp, Andrea Gropman +5 more

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

BMC Bioinformatics(2021)10.1186/s12859-021-04090-y

N/A

0DataRank · unranked

0 citations

Jeffrey N. Dudley, Celine Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp +5 more

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1 -related Malignant Hyperthermia Susceptibility

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.23.497341

N/A

0DataRank · unranked

1 citations

Robert T. Dirksen, Thierry Girard, Philip M. Hopkins, Natalia Kraeva, Ognoon Mungunsukh +13 more

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63306

N/A

0DataRank · unranked

4 citations

Kalpathy S. Krishnamoorthy, Jennifer J. Johnston, Mary Lee, Darren Fowler, Leslie G. Biesecker +2 more

Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63151

N/A

0DataRank · unranked

1 citations

Ingrid Scurr, Christopher Ours, Jennifer J. Johnston, Katharine C. Pike, Georgia Spentzou +1 more

Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants

Genetics in Medicine(2024)10.1016/j.gim.2024.101083

N/A

0DataRank · unranked

5 citations

Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G. Biesecker, Jennifer J. Johnston +1 more

Response to Kiel and Kozaric

Genetics in Medicine(2024)10.1016/j.gim.2024.101162

N/A

0DataRank · unranked

1 citations

Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G. Biesecker, Jennifer J. Johnston +1 more

Response to Wei et al

Genetics in Medicine(2024)10.1016/j.gim.2024.101209

N/A

0DataRank · unranked

0 citations

Seeley Yoo, Bailey Radenbaugh, Amber Douglass, Leslie G. Biesecker, Jennifer J. Johnston +1 more

Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival

Transplantation(2025)10.1097/tp.0000000000005504

N/A

0DataRank · unranked

1 citations

Sarah A. Bannon, Jia Yan, Rajarshi Ghosh, Ekaterina Damskey, Breanna Beers +41 more

Calibrating a functional assay for variant classification in RYR1 -related malignant hyperthermia susceptibility

Human Molecular Genetics(2025)10.1093/hmg/ddaf038

N/A

0DataRank · unranked

0 citations

Amber Douglass, Marwan A. Hawari, Linda Groom, Kathryn M. Stowell, Robert T. Dirksen +3 more

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.011

N/A

0DataRank · unranked

112 citations

Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner +25 more

Implementing secondary findings analysis in a genetic and environmental research study

Genetics in Medicine(2025)10.1016/j.gim.2025.101515

N/A

0DataRank · unranked

0 citations

Julie C. Sapp, Seeley Yoo, Zara Wermers, Sophia Hernandez, Alison A. Motsinger‐Reif +6 more