Author

Carolyn D. Applegate

Johns Hopkins UniversityORCID 0000-0002-9323-3887Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 4 Approach:statistical model· 4 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Andreas S. BarthiD· 2 shared Brittney A. MurrayiD· 2 shared Bryana J. RiversiD· 2 shared Catherine Gordon· 2 shared Crystal TichnelliD· 2 shared Cynthia A. JamesiD· 2 shared Emily E. BrowniD· 2 shared Kathryn Nunez· 2 shared

Activity by Year

2018-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Andreas S. BarthORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 29, 2026

Genetic Counseling Educational Videos Significantly Improve Access to Genetic Testing and Counseling for Inpatients with Cardiovascular Disease

Emily E. Brown, Bryana J. Rivers, Jeff Day…·Brittney A. Murray

This study shows that genetic counseling educational videos improve access to genetic testing and counseling for inpatients with cardiovascular disease by increasing consult volumes and patient decision-making confidence.

DOI 10.64898/2026.06.24.26356505

humanstatistical model

Genetic & Genomic MedicinemedRxivPreprintJun 1, 2026

Is it time for a paradigm shift? Tailored online video education instead of pretest genetic counseling facilitates high genetic test uptake and informed choice for adults seeking cardiovascular genetic testing

Bryana J. Rivers, Brittney A. Murray, Carolyn D. Applegate…·Cynthia A. James

This study shows that tailored online video education before genetic counseling increases genetic test uptake and informed decision-making for cardiovascular genetic testing.

DOI 10.64898/2026.05.28.26354394

humanstatistical model

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

GeneticsProceedings of the National Academy of SciencesPeer-reviewedFeb 20, 2018

Diagnostic utility of telomere length measurement in a hospital setting

Jonathan K. Alder, Vidya Sagar Hanumanthu, Margaret A. Strong…·Mary Y. Armanios

This study evaluates the diagnostic and prognostic value of telomere length measurement in a hospital setting, finding it alters treatment decisions in a subset of bone marrow failure patients.

270 citationstop 1%

humanstatistical model