Author

Kristiina Rannikmäe

Roslin InstituteORCID 0000-0002-2384-7568Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Amy FergusoniD· 2 shared Cathie L. M. SudlowiD· 2 shared Rainer MalikiD· 2 shared Albert TenesaiD· 1 shared Benno G. GesierichiD· 1 shared Bryan Ronald ConwayiD· 1 shared Christof HaffneriD· 1 shared David Ewart HenshalliD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amy FergusonORCID

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2 papers

Recent·Most cited

Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome sequencing data

Amy Ferguson, Sophie Thrippleton, David Ewart Henshall, Ed Whittaker, Bryan Ronald Conway, Malcolm Robert Macleod, Rainer Malik, Konrad Rawlik, Albert Tenesa, Cathie L. M. Sudlow, Kristiina Rannikmäe

The paper examines rare variants in monogenic cerebral small vessel disease genes in UK Biobank participants, finding limited phenotype associations and suggesting issues with previous gene-phenotype links.

Neurology Genetics · Aug 24, 2022Peer-reviewedGenetic & Genomic Medicine

Whole-exome sequencing in 16,511 individuals reveals a role of the HTRA1 protease and its substrate EGFL8 in brain white matter hyperintensities

Rainer Malik, Nathalie Beaufort, Simon Frerich, Benno G. Gesierich, Marios K. Georgakis, Kristiina Rannikmäe, Amy Ferguson, Christof Haffner, Matthew Traylor, Michael Ehrmann, Cathie L. M. Sudlow, Martin Dichgans

The paper identifies rare variants in HTRA1 and its substrate EGFL8 associated with increased white matter hyperintensities using whole-exome sequencing data from 16,511 UK Biobank individuals.

Brain · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine