Author

Edward Blair

University of Oxford

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam JacksoniD· 1 shared Alessandra RenieriiD· 1 shared Alexander J. M. BlakesiD· 1 shared Alison Milhench· 1 shared Amitav Parida· 1 shared Andrew Paul FennelliD· 1 shared Angela F. Brady· 1 shared Angelica Maria Delgado-VegaiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam JacksonORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad, Olivia J. Henry, Angelica Maria Delgado-Vega, Elizabeth Wall, Ola Abdelhadi, Shakti Agrawal, Khadijah Bakur, Edward Blair, Angela F. Brady, Helen K. Brittain, Kate Chandler, Natasha Clarke, Miriana Danelli, , Siddharth Banka

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor, Eric V Minikel, Exome Aggregation Consortium, Daniel G MacArthur, Martin Farrall, Stuart A Cook, Hugh C Watkins

The paper reassesses the pathogenicity of Mendelian genes by comparing rare variation frequencies between cardiomyopathy cases and large reference datasets, identifying false positives and overly conservative variant assessments.

Genetics in Medicine · Feb 1, 2017Peer-reviewedGenetics