Elizabeth Hynes

Biochemistry, Genetics and Molecular Biology · Life Sciences

14h-index1.5kcitations26works2.52yr avg
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Research Topics

Genomics and Rare Diseases(10), Cardiomyopathy and Myosin Studies(7), Cancer Genomics and Diagnostics(6), Genomics and Phylogenetic Studies(3), Genetic Associations and Epidemiology(3)

Publications24 total

848 Expression Profiles of ERG, SPINK1, PTEN, p53, RB1, p16, CylinD1, MMR in an Age/Race- Matched Cohort of Localized Prostate Cancer Treated with Radical Prostatectomy
Laboratory Investigation·2025Open Access
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
BMC Research Notes·2024· 5 citedOpen Access
Development of a clinical polygenic risk score assay and reporting workflow
Nature Medicine·2022· 181 citedOpen Access
Automated Pharmacogenomic Reports for Clinical Genome Sequencing
Journal of Molecular Diagnostics·2022· 8 citedOpen Access
Clinical validation, implementation, and reporting of polygenic risk scores for common diseases
2021· 2 citedOpen Access
Local Impedance Drop Predicts Durable Conduction Block in Patients with Paroxysmal Atrial Fibrillation
SSRN Electronic Journal·2021Open Access
The Presence and Behaviors of Service Animals, Emotional Support Animals, and Pets on a College Campus
2020
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
Journal of Molecular Diagnostics·2018· 27 citedOpen Access
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes
Human Mutation·2018· 13 citedOpen Access
Curating clinically relevant transcripts for the interpretation of sequence variants
2018· 5 citedOpen Access
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin
Clinical Chemistry·2018· 36 citedOpen Access
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing
Journal of Molecular Diagnostics·2016· 14 cited
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
Genetics in Medicine·2016· 237 citedOpen Access
The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers
Journal of Personalized Medicine·2016· 15 citedOpen Access
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
Genetics in Medicine·2015· 75 citedOpen Access
Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies
Molecular Genetics & Genomic Medicine·2015· 39 citedOpen Access
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus
Human Mutation·2015· 53 cited
Comprehensive Diagnostic Testing for Stereocilin
Journal of Molecular Diagnostics·2014· 68 citedOpen Access
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Genetics in Medicine·2014· 362 cited
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
Journal of Cardiac Failure·2012· 160 cited
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Frequent Co-authors

Birgit Funke(12), Mark Bowser(10), Heidi L. Rehm(10), Sami S. Amr(8), Matthew S. Lebo(7), Lisa Mahanta(5), Trevor J. Pugh(4), Neal K. Lakdawala(4), Ahmad Abou Tayoun(4), Sivakumar Gowrisankar(3), Emily White(3), Christopher Koch(3), Jonathan G. Seidman(3), Christine E. Seidman(3), Carolyn Y. Ho(3), Melissa Kelly(2), Samantha Baxter(2), Bryan D. Harrison(2), Diana Mandelker(2), Limin Hao(2)