Elizabeth D. Hynes

Curating clinically relevant transcripts for the interpretation of sequence variants

Mark J. Bowser, Andrew R. Grant, Michael A. Gonzalez, 2018, bioRxiv.

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Birgit Funke, Sivakumar Gowrisankar, Matthew S. Lebo, 2015, Genetics in Medicine.

Development of a clinical polygenic risk score assay and reporting workflow

Matthew S. Lebo, G. Berriz, P. Kraft, 2022, Nature Medicine.

Clinical validation, implementation, and reporting of polygenic risk scores for common diseases

Matthew S. Lebo, G. Berriz, P. Kraft, 2021 .

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Sivakumar Gowrisankar, Matthew S. Lebo, Heidi L. Rehm, 2014, Genetics in Medicine.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Automated Pharmacogenomic Reports for Clinical Genome Sequencing.

Matthew S. Lebo, B. Klanderman, K. Machini, 2022, The Journal of molecular diagnostics : JMD.

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Matthew S. Lebo, Mark J. Bowser, Trevor J Pugh, 2015, Molecular genetics & genomic medicine.

NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes

O. Ceyhan-Birsoy, B. Funke, H. Mason-Suares, 2018, Human mutation.