Author

Arthur Stefanski

Cleveland ClinicORCID 0000-0002-9937-9764Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Dennis LaliD· 3 shared Eduardo Pérez‐PalmaiD· 3 shared Chiara KlöckneriD· 2 shared Johannes R. LemkeiD· 2 shared Konrad PlatzeriD· 2 shared Ludovica MontanucciiD· 2 shared Marie MacneeiD· 2 shared Michael NothnageliD· 2 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Dennis LalORCID

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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

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online

Marie Macnee, Eduardo Pérez‐Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L. Collins, Michael E. Talkowski, Daniel J Blankenberg, Rikke Steensbjerre Møller, Johannes R. Lemke, Michael Nothnagel, , Dennis Lal

CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.

medRxiv · Mar 23, 2022 · PreprintGenetic & Genomic Medicine

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability:A systematic review and meta-analysis

Arthur Stefanski, Yamile Calle‐López, Costin Leu, Eduardo Pérez‐Palma, Elia Pestana‐Knight, Dennis Lal

This paper performs a systematic review and meta-analysis of 79 studies to compare diagnostic yields of next-generation sequencing in epilepsy, autism spectrum disorder, and intellectual disability, finding higher yields with exome sequencing.

Epilepsia · Nov 17, 2020Peer-reviewedGenetic & Genomic Medicine