Author

Steven Froelich

BioMarin (United States)

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Arthur WüsteriD· 3 shared Marena I. TrinidadiD· 3 shared Jonathan H. LeBowitziD· 2 shared Karol EstradaiD· 2 shared Katrine M. JohanneseniD· 2 shared Rikke Steensbjerre MølleriD· 2 shared Aarno V. PalotieiD· 1 shared Alexander T. DengiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Arthur WüsterORCID

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Author profile →

3 papers

Recent·Most cited

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

Tobias Brünger, Ilona Krey, Suyeon Kim, Chiara Klöckner, Scott J. Myers, Katrine M. Johannesen, Arthur Stefanski, Gary Taylor, Eduardo Pérez‐Palma, Marie Macnee, Stéphanie Schorge, Rebekka S. Dahl, Hongjie Yuan, Riley E. Perszyk, Sukhan Kim, , Dennis Lal

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

medRxiv · Mar 6, 2026 · PreprintGenetic & Genomic Medicine

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1/GAT-1 variants

Dina Buitrago Silva, Marena I. Trinidad, Alicia Ljungdahl, Jezrael L. Revalde, Geoffrey Y. Berguig, William Wallace, Cory S. Patrick, Lorenzo Bomba, Michelle R. Arkin, Shan Dong, Karol Estrada, Keino Hutchinson, Jonathan H. LeBowitz, Avner Schlessinger, Katrine M. Johannesen, , Arthur Wüster

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

medRxiv · Mar 9, 2022 · PreprintGenetic & Genomic Medicine

Identifying therapeutic drug targets for rare and common forms of short stature

Karol Estrada, Steven Froelich, Arthur Wüster, Christopher R. Bauer, Teague Sterling, Wyatt Travis Clark, Yuanbin Ru, Marena I. Trinidad, Hong Phuc Nguyen, Amanda R. Luu, Daniel J. Wendt, Gouri Yogalingam, Guoying Karen Yu, Jonathan H. LeBowitz, Lon R. Cardon

The paper identifies bidirectional effect genes associated with short stature using GWAS data and validates their therapeutic potential through functional assays and clinical trial success.

bioRxiv · Apr 2, 2020 · PreprintGenetics