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Article

Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.

Communications biology - 25 Oct 2022

Yenkin Alex L, Bramley John C, Kremitzki Colin L, Waligorski Jason E, Liebeskind Mariel J, Xu Xinyuan E, Chandrasekaran Vinay D, Vakaki Maria A, Bachman Graham W, Mitra Robi D, Milbrandt Jeffrey D, Buchser William J

Abstract excerpt

Most human genetic variation is classified as variants of uncertain significance. While advances in genome editing have allowed innovation in pooled screening platforms, many screens deal with relatively simple readouts (viability, fluorescence) and cannot identify the complex cellular phenotypes that underlie most human diseases. In this paper, we present a generalizable functional genomics platform that...

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Identifiers

PMID: 36284160
DOI: 10.1038/s42003-022-04089-y
PMCID: PMC9596453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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