Author

Alexander F McDonnell

Institute of Genetics and CancerORCID 0000-0003-1804-1006Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Benjamin LiveseyiD· 1 shared David R FitzPatrickiD· 1 shared Grzegorz R. KudlaiD· 1 shared Hildegard Nikki HalliD· 1 shared Joseph A. MarshiD· 1 shared Liusaidh J. OweniD· 1 shared Lukas GerasimaviciusiD· 1 shared Marcin PlechiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Benjamin LiveseyORCID

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1 paper

Recent·Most cited

GeneticsMolecular Systems BiologyPeer-reviewedJun 7, 2024

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

Alexander F McDonnell, Marcin Plech, Benjamin Livesey…·Grzegorz R. Kudla

The paper uses deep mutational scanning to quantify PAX6:DNA binding and predict clinical outcomes of variants, finding most pathogenic mutations affect DNA binding.

17 citationstop 4%

humanproteomics

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