Author

Hildegard Nikki Hall

Institute of Genetics and CancerORCID 0000-0001-7082-1523Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexander F McDonnelliD· 1 shared Algy Taylor· 1 shared Andrew G.L. Douglas· 1 shared Benjamin LiveseyiD· 1 shared Charlie F RowlandsiD· 1 shared David R FitzPatrickiD· 1 shared Diana BaralleiD· 1 shared Gillian RiceiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Alexander F McDonnellORCID

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2 papers

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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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJan 21, 2022

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

Charlie F Rowlands, Algy Taylor, Gillian Rice…·Jamie M. Ellingford

The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.

29 citations

humanbulk RNA-seq

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