Author

Joshi A. Stephen

Baylor College of MedicineORCID 0000-0002-4278-6924Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Bo YuaniD· 1 shared Charul Gijavanekar· 1 shared Chelsi Jeter· 1 shared Cynthia J. TifftiD· 1 shared David R. AdamsiD· 1 shared E. Andres Rivera-MunoziD· 1 shared Eric VenneriD· 1 shared Francisco Delca· 1 shared

Activity by Year

2020-2026 · peak 1/yr

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10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Bo YuanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 19, 2026

Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics Literature

Mullai Murugan, Bo Yuan, Joshi A. Stephen…·Eric Venner

This paper evaluates large language models for automated PS4 evidence extraction from clinical genomics literature, finding high accuracy but model-dependent performance.

DOI 10.64898/2026.02.18.26346543

GWAS summary statisticsmachine learning (classical)

𝕏 PostBluesky

Developmental BiologyDisease Models & MechanismsPeer-reviewedJan 1, 2020

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Kristin M. Ates, Tong Wang, Trevor Moreland…·Y. Albert Pan

This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.

9 citations

zebrafishexperimental assay

𝕏 PostBluesky