Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using ‘RHABDO’ Features
These results highlight the relevance of WES in further elucidating the genetic basis of rhabdomyolysis and demonstrated that RHABDO is a valuable tool for selecting patients who should undergo genetic testing.
Authors
- Jasper J. Kramer (ORCID: https://orcid.org/0000-0001-7738-9024)
- Luuk R. van den Bersselaar (ORCID: https://orcid.org/0000-0001-7735-3267)
- Nicol Cornelia Voermans (ORCID: https://orcid.org/0000-0002-5837-7295)
- Sanne A. J. H. van de Camp (ORCID: https://orcid.org/0000-0002-4028-1113)
- Heinz Jungbluth (ORCID: https://orcid.org/0000-0002-7159-3427)
- Nick Kruijt (ORCID: https://orcid.org/0000-0001-8935-6772)
- Thatjana Gardeitchik
- Meyke Schouten (ORCID: https://orcid.org/0000-0002-7763-8956)
- Anneke J. van der Kooi (ORCID: https://orcid.org/0000-0002-5261-5512)
- Salman Bhai (ORCID: https://orcid.org/0000-0003-4702-9380)
- Erik‐Jan Kamsteeg (ORCID: https://orcid.org/0000-0001-6480-1892)
Institutions
- Radboud University Nijmegen (NL)
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Texas Health Dallas (US)
- University Medical Center (US)
- Radboud University Medical Center (NL)
- Amsterdam Neuroscience (NL)
- Radboud Institute for Molecular Life Sciences (NL)
- Canisius-Wilhelmina Ziekenhuis (NL)
- Evelina London Children's Healthcare (GB)
- Institute for Exercise and Environmental Medicine (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Genes
- Published
- 2025-08-25
- DOI
- https://doi.org/10.3390/genes16090995
- Citations
- 1
- Primary Topic
- Muscle and Compartmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.01
Funders
- Radboud Universitair Medisch Centrum