Author

James Verbsky

Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin and Childrens Wisconsin, Milwaukee, WI;

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alejandro Nieto-Patlan· 1 shared Alice Y Chan· 1 shared Bo YuaniD· 1 shared Brian Hon-Yin Chung· 1 shared Britt A Johnson· 1 shared Eric J Allenspach· 1 shared Ivan K Chinn· 1 shared Jennifer M. PuckiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alejandro Nieto-Patlan

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1 paper

Recent·Most cited

Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Vanessa Cristina Jacovas, Yasemin Demirkol, Alejandro Nieto-Patlan, Shiloh Martin, Shannon McNulty, Eric J Allenspach, Svetlana Vakkilainen, Luigi D Notarangelo, Jennifer M. Puck, Jolan Walter, Alice Y Chan, Morton J Cowan, Michael S Hershfield, Nicolai S. C. van Oers, James Verbsky, , Ivan K Chinn

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

medRxiv · Nov 3, 2026 · PreprintGenetic & Genomic Medicine