Author

Emerson Lebleu

University of Utah

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alistair WardiD· 2 shared Isabelle B. CoopersteiniD· 2 shared Barry MooreiD· 1 shared Chelsea M. Solorzano· 1 shared Douglas MartiniD· 1 shared Gábor MarthiD· 1 shared Jorie ButleriD· 1 shared Kelsey A. SimekiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alistair WardORCID

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2 papers

Recent·Most cited

Usability and workflow implications of an electronic health record-integrated tool for automated phenotyping: Formative evaluation of Pheno+

Peter A. Taber, L Weaver, Tony Di Sera, Chelsea M. Solorzano, Emerson Lebleu, Mickey L Bolyard, Jorie Butler, Tanner Ellsworth, Isabelle B. Cooperstein, Paul Estabrooks, Kensaku Kawamoto, Phillip B. Warner, Kelsey A. Simek, Martin Tristani‐Firouzi, Alistair Ward, , Sabrina Malone Jenkins

The paper evaluates Pheno+, an EHR-integrated tool for automated phenotyping, finding it has good usability but requires curation to reduce errors and reshape clinical workflows.

medRxiv · Sep 23, 2026 · PreprintGenetic & Genomic Medicine

Patient-to-patient phenotype matching enables rare disease gene prioritization beyond curated gene-phenotype associations

Isabelle B. Cooperstein, Alistair Ward, Shilpa N. Kobren, Emerson Lebleu, Barry Moore, Rebecca C. Spillmann, Vandana Shashi, Undiagnosed Diseases Network, Gábor Marth

This paper introduces SimPheny, a framework that uses patient-to-patient phenotype matching to prioritize genes for rare disease diagnosis, outperforming existing methods in cases with limited phenotype associations.

medRxiv · Aug 24, 2026 · PreprintGenetic & Genomic Medicine