Author

Nigel Philip Davies

St Thomas' HospitalORCID 0000-0002-9335-6668Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abdur Rehman· 1 shared Andrew R. WebsteriD· 1 shared Atta Ur RehmaniD· 1 shared Bart Peter LeroyiD· 1 shared Carlo RivoltaiD· 1 shared Carmel ToomesiD· 1 shared Chris F. InglehearniD· 1 shared Dan DonnellyiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abdur Rehman

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1 paper

Recent·Most cited

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease.

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, Elfride B. W. De Baere, , Chris F. Inglehearn

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.

bioRxiv · Feb 20, 2020 · PreprintGenetics