Pathogenic Morphological Signatures of Perturbations in Mitochondrial-Related Genes Revealed by Pooled Imaging Assay
Colin L. Kremitzki, Jason E. Waligorski, Graham W. Bachman, Lina Mohammed Ali, John C. Bramley, Maria A. Vakaki, Vinay D. Chandrasekaran, Purva Patel, Dhruv Mather, Paul M. Hime, Robi David Mitra, Jeffrey Milbrandt, William Buchser
The paper identifies mitochondrial-related genes critical for morphology using a pooled imaging assay and reveals pathogenic variants associated with mitochondrial aggregation.
npj Imaging · Aug 1, 2025Peer-reviewedGenetics