Author

Päivi Johanna Miettinen

University of HelsinkiORCID 0000-0002-5184-9616Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Jarno L. T. KettuneniD· 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

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alena Stančáková

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedOct 6, 2017

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…·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.

139 citationstop 1%

humanwhole-exome sequencing