Jeffrey Johnston

Mercy Research — United States

Medicine · Health Sciences

16h-index2.2kcitations81works2.12yr avg
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Research Topics

Gastrointestinal motility and disorders(25), Genomics and Rare Diseases(16), Genomics and Chromatin Dynamics(10), Genomic variations and chromosomal abnormalities(10), RNA Research and Splicing(9)

Publications81 total

Evolving epigenomics of immune cells at single-nucleus resolution in children en route to type 1 diabetes
Nature Communications·2026Open Access
Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
JAMA Pediatrics·2025· 2 citedOpen Access
Evolving epigenomics of immune cells in type 1 diabetes at single nuclei resolution
2025Open Access
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation
Nature Communications·2024· 8 citedOpen Access
Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing
Frontiers in Immunology·2024· 3 citedOpen Access
Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores
2024Open Access
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation
2024· 3 citedOpen Access
O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?
Genetics in Medicine Open·2024· 1 citedOpen Access
Genomic Insights into Pediatric Intestinal Inflammatory and Eosinophilic Disorders using Single-sell RNA-sequencing
2023Open Access
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Nature Communications·2023· 38 citedOpen Access
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Genetics in Medicine·2023· 16 citedOpen Access
P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes*
Genetics in Medicine Open·2023Open Access
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
2022· 10 citedOpen Access
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
Clinical Chemistry·2022· 9 citedOpen Access
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Scientific Reports·2022· 5 citedOpen Access
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Genetics in Medicine·2022· 89 citedOpen Access
eP422: Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials
Genetics in Medicine·2022
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation
Biomarker Insights·2022· 16 citedOpen Access
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
2021· 2 citedOpen Access
IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
2021Open Access
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Frequent Co-authors

Tomi Pastinen(13), Julia Zeitlinger(12), Emily Farrow(11), Warren Cheung(10), Elin Grundberg(10), Ana S.A. Cohen(9), Isabelle Thiffault(9), Bernard J. Lavins(9), Steven J. Shiff(8), Margaret Gibson(7), Anthony Lembo(7), Harvey Schneier(7), Kai Chen(6), Carl Schwendinger-Schreck(6), Caroline B. Kurtz(6), Mark G. Currie(6), Daniel Louiselle(5), Scott T. Younger(5), Tricia Zion(5), John C. Means(5)