Author

Janna Kenny

Broad InstituteORCID 0000-0002-2271-1941Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amelie T. van der VeniD· 1 shared An‐Sofie SchoonjansiD· 1 shared Andrea Rueegger· 1 shared Anna Esteve‐CodinaiD· 1 shared Anna JanseniD· 1 shared Anne Schulz· 1 shared Barbara CastellottiiD· 1 shared Bernd Axel NeubaueriD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amelie T. van der VenORCID

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2 papers

Recent·Most cited

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

Joohyun Park, Zakaria Eddafir, Josua Kegele, Davide Mei, Noor Smal, Christina Vossler-Wolf, Kornelia Ellwanger, Charissa Millevert, Merel Swinnen, Robert J. Lauerer, Heidi Loeffler, Thomas Ott, German M. Demidov, Michael Alber, Francesca Bisulli, , Holger Lerche

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

medRxiv · Oct 28, 2026 · PreprintGenetic & Genomic Medicine

Age of onset in genetic prion disease and the design of preventive clinical trials

Eric Vallabh Minikel, Sonia M. Vallabh, Margaret C. Orseth, Jean‐Philippe Brandel, Stéphane Haı̈k, Jean Laplanche, Inga Zerr, Piero Parchi, Sabina Capellari, Jiri Safar, Janna Kenny, Jamie C Fong, Leonel Tadao Takada, Claudia Ponto, Péter Hermann, , Simon Mead

This paper quantifies the challenges of designing preventive clinical trials for genetic prion disease due to high variability in age of onset, suggesting the need for biomarker-based trials.

Neurology · Jun 6, 2019Peer-reviewedNeuroscience