Author

Katja Häkkinen

University of HelsinkiORCID 0000-0001-8222-7505Unclaimed 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· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aarno V. PalotieiD· 3 shared Ari Ahola‐OlliiD· 3 shared Erkki Tapio IsometsäiD· 3 shared Jaana SuvisaariiD· 3 shared Jari TiihoneniD· 3 shared Jarmo A. HietalaiD· 3 shared Jouko K LönnqvistiD· 3 shared Kaisla Lahdensuo· 3 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Aarno V. PalotieORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 25, 2023

The impact of rare protein coding genetic variation on adult cognitive function

Chia‐Yen Chen, Ruoyu Tian, Tian Ge…·Heiko Runz

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

71 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineMolecular PharmaceuticsPeer-reviewedFeb 13, 2023

Functional characterization of six SLCO1B1 (OATP1B1) variants observed in Finnish individuals with a psychotic disorder

Katja Häkkinen, Wilma Kiander, Heidi Kidron…·the SUPER-Finland researchers listed in the Acknowledgements

The paper investigates six rare SLCO1B1 variants in Finnish individuals with psychosis, finding one variant causes loss-of-function and reduced OATP1B1 protein expression.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe Pharmacogenomics JournalPeer-reviewedFeb 23, 2022

Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder

Katja Häkkinen, Johanna I. Kiiski, Markku Lähteenvuo…·Ari Ahola‐Olli

The paper constructs a CYP2D6 copy-number imputation panel and reports pharmacogenetic variant frequencies in Finnish individuals with psychosis, showing high imputation accuracy but limited clinical utility.

11 citations

humanGWAS summary statistics

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