Author

Riikka Keski‐Filppula

Oulu University Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:polygenic risk· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aarno V. PalotieiD· 1 shared Alexander HoischeniD· 1 shared Alice Janssen· 1 shared Annet SimonsiD· 1 shared Anthony Vandersteen· 1 shared Beáta DérfalviiD· 1 shared Caspar I. van der MadeiD· 1 shared Catharina M. Mulders‐MandersiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Aarno V. PalotieORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 14, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMay 28, 2018

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

Mitja Kurki, Elmo Saarentaus, Olli P. H. Pietiläinen…·Aarno V. Palotie

The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky