Author

Torild Skrivarhaug

Oslo University HospitalORCID 0000-0002-4352-5929Unclaimed 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· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anette S. B. WolffiD· 1 shared Bente Berg JohanssoniD· 1 shared Divya Sri Priyanka Tallapragada· 1 shared Eirik BratlandiD· 1 shared Ellen Christine RøyrvikiD· 1 shared Haydeé ArtazaiD· 1 shared Janne MolnesiD· 1 shared Ksenia Lavrichenko· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anette S. B. WolffORCID

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Author profile →

1 paper

Recent·Most cited

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

Haydeé Artaza, Divya Sri Priyanka Tallapragada, Janne Molnes, Ksenia Lavrichenko, Anette S. B. Wolff, Ellen Christine Røyrvik, Torild Skrivarhaug, Marc Vaudel, Eirik Bratland, Bente Berg Johansson, Pål R. Njølstad, Stefan Johansson

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

medRxiv · Feb 25, 2025 · PreprintGenetic & Genomic Medicine