Author

Christelle Robert

Institute of Genetics and CancerPrimary ORCID profile (0000-0002-6033-1341 · 2 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Christelle RobertiD2 papers · Roslin Institute

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:benchmark study· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Timothy J. AitmaniD· 2 shared Alexander LairdiD· 1 shared Alison M. MeynertiD· 1 shared Alison Ross· 1 shared Alistair T. PagnamentaiD· 1 shared Andrew L. TambyrajaiD· 1 shared Anne Lampe· 1 shared Anthony McGuiganiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Timothy J. AitmanORCID

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2 papers

Recent·Most cited

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross, Edward S. Tobias, Ruth McGowan, Morad Ansari, David U. Baty, Jonathan N. Berg, Therese Bradley, Vera Cerqueira, Austin G. Diamond, Mihail R. Halachev, Anne Lampe, , Timothy J. Aitman

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

European Journal of Human Genetics · Aug 5, 2026Peer-reviewedGenetic & Genomic Medicine

Plasma Cell-Free DNA in Acute and Chronic Aortic Syndromes.

Ruwan Alwis Weerakkody, Martyna Joanna Adamowicz, Christelle Robert, John D. Pound, Maaz B. J. Syed, Caroline Pumpe, Anwar Muhammad Bilal, Alexander Laird, Duncan B. McLaren, Orwa Falah, Andrew L. Tambyraja, Matthew James Reed, David Ernest Newby, Timothy J. Aitman

The paper shows plasma short-fragment cfDNA concentration is higher in acute and chronic aortic disease compared to controls and is higher in acute cases, suggesting it could be a diagnostic biomarker.

bioRxiv · Jan 6, 2025 · PreprintGenomics