Imaging Flow Cytometry-Based Cellular Screening Elucidates Pathophysiology in Individuals with Variants of Uncertain Significance.

Irena Josephina Johanna Muffels, Hans R. Waterham,Giuseppina D’Alessandro,Guido Zagnoli-Vieira,Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne,Chaim M. Roifman, Koen L. I. Gassen,Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis,Stephen P. Jackson,Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

Genome Medicine（2025）

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Key words

Imaging flow cytometry,Variant of uncertain significance,Precision genomic diagnostics,DNA damage repair defect,Genetic diseases,Metabolic disorders,High-throughput screening,Functional genomics

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