Author

Ramona Salvarinova

University of British ColumbiaORCID 0000-0002-8132-9136Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Clara van KarnebeekiD· 2 shared Anita DattaiD· 1 shared Anja HolziD· 1 shared Arndt BorkhardtiD· 1 shared Aspasia Michoulas· 1 shared Bruce BjörnsoniD· 1 shared C DeGuzman· 1 shared Cécile LibioulleiD· 1 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Clara van KarnebeekORCID

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2 papers

Recent·Most cited

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till A. Braunschweig, Joachim Weis, Clemens J. Sommer, Stephanie Demuth, Claudia Haase, , Florian Kraft

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.

Journal of Clinical Investigation · May 4, 2021Peer-reviewedGenetic & Genomic Medicine

Diagnostic Yield And Treatment Impact Of Targeted Exome Sequencing In Early-Onset Epilepsy

Michelle K. Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus G. Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn A. Selby, Bruce Björnson, Gabriella Ana Horvath, Elena Lopez‐Rangel, , Matthew James Farrer

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.

Frontiers in Neurology · May 21, 2019Peer-reviewedGenetics