Author

Päivi Johanna Miettinen

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

Biology Disciplines

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Cell Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:cancer & tumor microenvironment· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alena Stančáková· 1 shared Anders TengholmiD· 1 shared Andrew Tym HattersleyiD· 1 shared Diego BalboaiD· 1 shared Hazem IbrahimiD· 1 shared Hossam MontaseriD· 1 shared Jarkko Ustinov· 1 shared Jarno L. T. KettuneniD· 1 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Alena Stančáková

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2 papers

Recent·Most cited

Cell BiologyDiabetologiaPeer-reviewedMay 14, 2024

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell functionality

Hazem Ibrahim, Diego Balboa, Jonna Saarimäki‐Vire…·Timo Otonkoski

This study shows that RFX6 haploinsufficiency impairs beta cell function, leading to reduced insulin secretion and increased diabetes risk.

26 citationstop 2%

humanexperimental assay

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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

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