Author

Rikke Katrine Jentoft Olsen

Aarhus UniversityORCID 0000-0003-3470-5589Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Agnès RötigiD· 2 shared Akira OhtakeiD· 2 shared Costanza LampertiiD· 2 shared Daniele GhezziiD· 2 shared Dmitrii SmirnoviD· 2 shared Dorota Piekutowska‐AbramczukiD· 2 shared Felix DistelmaieriD· 2 shared Holger ProkischiD· 2 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Agnès RötigORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 21, 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk…·Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMar 9, 2021

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton…·Holger Prokisch

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

47 citations

humanproteomics

𝕏 PostBluesky