Author

Man‐Kim Cheung

University of the West of England

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Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Gabrielle WhewayiD· 1 shared Jelmer LegebekeiD· 1 shared Jenny LordiD· 1 shared Liliya NazlamovaiD· 1 shared Nicholas Simon ThomasiD· 1 shared Reuben J. PengellyiD· 1 shared William TapperiD· 1 shared

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2020-2020 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Gabrielle WhewayORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman GeneticsPeer-reviewedOct 23, 2020

High-throughput PRPF31 variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines

Liliya Nazlamova, Nicholas Simon Thomas, Man‐Kim Cheung…·Gabrielle Wheway

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

9 citations

humanexperimental assay

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