Author

Alex Stuckey

Genomics England

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam P GiessiD· 2 shared Afshan SiddiqiD· 2 shared Alexander SieghartiD· 2 shared Alona SosinskyiD· 2 shared Angela D. HambliniD· 2 shared Anna C. NeediD· 2 shared Athanasios KousathanasiD· 2 shared Christine PatchiD· 2 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adam P GiessORCID

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2 papers

Recent·Most cited

An intermediate effect size variant in UMOD confers risk for chronic kidney disease

Eric Gregory Olinger, Céline Schaeffer, Kendrah O. Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly R. Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel Guido Fuster, Andreas David Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, , Magdalena Zarowiecki

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

Proceedings of the National Academy of Sciences · Aug 10, 2022Peer-reviewedGenetic & Genomic Medicine

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, , R. Sultana

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

npj Genomic Medicine · Mar 14, 2022Peer-reviewedGenetic & Genomic Medicine