Author

Ruth McGowan

Centre Hospitalier Universitaire de RennesORCID 0000-0002-2188-2239Unclaimed ORCID profile · follow to get notified of new preprints

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 Approach:benchmark study· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander J.M. DingemansiD· 1 shared Alexander P.A. StegmanniD· 1 shared Alison M. MeynertiD· 1 shared Alison Ross· 1 shared Alistair T. PagnamentaiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Anne Lampe· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander J.M. DingemansORCID

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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

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat‐Houari, Brad Angle, Nicolas Chatron, the DDD study, Anne‐Sophie Denommé‐Pichon, Orrin Devinsky, , Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

Genetics in Medicine · Jul 14, 2022Peer-reviewedGenetic & Genomic Medicine