Author

Dena R. Matalon

Stanford MedicineORCID 0000-0001-8616-7239Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Jonathan Adam BernsteiniD· 2 shared Matthew Thomas WheeleriD· 2 shared Alan H. BeggsiD· 1 shared Alexander M MilleriD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Casie A. GenettiiD· 1 shared Cole A. DeisserothiD· 1 shared Devon E. BonneriD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jonathan Adam BernsteinORCID

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2 papers

Recent·Most cited

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

Taylor M. Maurer, Rodrigo Mendez, Rachel A. Ungar, Devon E. Bonner, Dena R. Matalon, Gabrielle Lemire, Pagé C. Goddard, Evin M. Padhi, Alexander M Miller, Jonathan V. Nguyen, Jialan Ma, Kevin S. Smith, Stuart Alexander Scott, Linda Liao, Zena Ng, , Vijay S Ganesh

The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.

The American Journal of Human Genetics · Sep 19, 2025Peer-reviewedGenetic & Genomic Medicine

ClinPhen extracts and prioritizes patientphenotypes directly from medical records to accelerate genetic disease diagnosis

Cole A. Deisseroth, Johannes A. Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, Donna M. Brown, Klaus Schmitz‐Abe, Kelly Schoch, Heidi Cope, Rebecca H. Signer, Julián A. Martínez-Agosto, Vandana Shashi, Alan H. Beggs, , Gill Bejerano

ClinPhen automatically extracts and prioritizes patient phenotypes from medical records to improve genetic disease diagnosis efficiency.

Genetics in Medicine · Dec 4, 2018Peer-reviewedGenomics