Author

Jarno L. T. Kettunen

University of HelsinkiORCID 0000-0002-9995-698XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alena Stančáková· 1 shared Andrew Tym HattersleyiD· 1 shared Kashyap Amratlal PateliD· 1 shared Kevin ColcloughiD· 1 shared Leif GroopiD· 1 shared Maggie H. ShepherdiD· 1 shared Marc Joel AbramowicziD· 1 shared Markku LaaksoiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alena Stančáková

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1 paper

Recent·Most cited

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Kashyap Amratlal Patel, Jarno L. T. Kettunen, Markku Laakso, Alena Stančáková, Thomas William Laver, Kevin Colclough, Matthew B. Johnson, Marc Joel Abramowicz, Leif Groop, Päivi Johanna Miettinen, Maggie H. Shepherd, Sarah Elizabeth Flanagan, Sian Ellard, Nobuya Inagaki, Andrew Tym Hattersley, , Michael N. Weedon

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.

Nature Communications · Oct 6, 2017Peer-reviewedGenetics