Author

Robert Kleta

Great Ormond Street Hospital for Children NHS Foundation TrustORCID 0000-0002-0228-8656Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:whole-genome sequencing· 2 Research Focus:cancer & tumor microenvironment· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Daniel Philip GaleiD· 3 shared Detlef BöckenhaueriD· 3 shared Horia C. StanescuiD· 3 shared Omid Sadeghi‐AlavijehiD· 3 shared Adam P. LevineiD· 2 shared C VoinescuiD· 2 shared William G. NewmaniD· 2 shared Adrian S. WoolfiD· 1 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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3 shared papersGenetic & Genomic Medicine

Daniel Philip GaleORCID

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Author profile →

4 papers

Recent·Most cited

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

Donato Iacovazzo, Federica Begalli, Oniz Suleyman, Márton Doleschall, Maria Alevizaki, Kevin E. Ashelford, Sherine Awad Mahmoud, Anne Barlier, Sayka Barry, Caroline E Brain, Claudia Cabrera, Frédéric Castinetti, Sabrina Chiloiro, Kevin Colclough, Alexandra Csábi, , Márta Korbonits

The paper identifies an SLC30A9 deletion causing familial medullary thyroid carcinoma through translation reinitiation and shows its oncogenic effects.

medRxiv · Feb 27, 2026 · PreprintGenetic & Genomic Medicine

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah Raphael Behr, Katherine Angela Benson, Marta Bértoli, Detlef Böckenhauer, Michael R. Bowl, Kate Burley, Li F. Chan, Patrick Francis Chinnery, Peter J. Conlon, Marcos Abreu Costa, , Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

medRxiv · Dec 20, 2023 · PreprintGenetic & Genomic Medicine

Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome

Mallory L. Downie, Sanjana Gupta, C Voinescu, Adam P. Levine, Omid Sadeghi‐Alavijeh, Stephanie Dufek, Jingjing Cao, Martin T. Christian, Jameela Abdulaziz Kari, Shenal Thalgahagoda, Randula Ranawaka, Asiri Samantha Abeyagunawardena, Rasheed Gbadegesin, Rulan Savita Parekh, Robert Kleta, , Daniel Philip Gale

This study identifies a novel genetic association between AHI1 variants and steroid-sensitive nephrotic syndrome in both Sri Lankan and European populations.

Kidney International Reports · May 26, 2023Peer-reviewedGenetics

Mixed ancestry analysis of whole-genome sequencing identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

Melanie Chan, Omid Sadeghi‐Alavijeh, Filipa M. Lopes, Alina Christine Hilger, Horia C. Stanescu, C Voinescu, Glenda M. Beaman, William G. Newman, Marcin Zaniew, Stefanie Weber, Yee Mang Ho, John O. Connolly, Dan N. Wood, Carlo Maj, Alexander Stuckey, , Daniel Philip Gale

eLife · Sep 5, 2022Peer-reviewedGenetic & Genomic Medicine