Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance
Our high-throughput IFC-based platform simplifies the process of identifying VUS pathogenicity through six assays and allows for the recognition of useful pathophysiological markers that structure follow-up experiments, thereby representing a novel valuable tool for precise functional diagnostics in genomics.
Authors
- Holger Rehmann
- Désirée Y. van Haaften–Visser (ORCID: https://orcid.org/0000-0002-5598-8840)
- Femke van Wijk (ORCID: https://orcid.org/0000-0001-8343-1356)
- Koen L.I. van Gassen (ORCID: https://orcid.org/0000-0001-7934-0662)
- Sabine A. Fuchs (ORCID: https://orcid.org/0000-0001-9147-2406)
- Peter van Hasselt
- Michael Sacher (ORCID: https://orcid.org/0000-0003-2926-5064)
- Irena Josephina Johanna Muffels (ORCID: https://orcid.org/0000-0002-4335-5034)
- Guido Zagnoli-Vieira (ORCID: https://orcid.org/0000-0002-5656-1056)
- Hans R. Waterham (ORCID: https://orcid.org/0000-0001-5147-7106)
- Stephen P. Jackson (ORCID: https://orcid.org/0000-0001-9317-7937)
- Edward E. S. Nieuwenhuis (ORCID: https://orcid.org/0000-0001-8094-1211)
- Chaim M. Roifman (ORCID: https://orcid.org/0000-0002-7519-4116)
- Giuseppina D’Alessandro (ORCID: https://orcid.org/0000-0001-5448-8652)
- Dirk J. Lefeber (ORCID: https://orcid.org/0000-0001-7770-8398)
- Celine Van der Vinne
Institutions
- Radboud University Nijmegen (NL)
- University of Toronto (CA)
- Utrecht University (NL)
- University of Cambridge (GB)
- Cancer Research UK (GB)
- Hospital for Sick Children (CA)
- The Gurdon Institute (GB)
- Erasmus MC (NL)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- SickKids Foundation (CA)
- Amsterdam University Medical Centers (NL)
- Wilhelmina Children's Hospital (NL)
- McGill University (CA)
- Concordia University (CA)
- Flensburg University of Applied Sciences (DE)
Publication Details
- Journal
- Genome Medicine
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1186/s13073-025-01433-9
- Citations
- 3
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 4.16
Funders
- University of Sussex
- Wilhelmina Kinderziekenhuis