Author

Sophie Thrippleton

Roslin Institute

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Albert TenesaiD· 1 shared Amy FergusoniD· 1 shared Bryan Ronald ConwayiD· 1 shared Cathie L. M. SudlowiD· 1 shared David Ewart HenshalliD· 1 shared Ed WhittakeriD· 1 shared Konrad RawlikiD· 1 shared Kristiina RannikmäeiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albert TenesaORCID

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1 paper

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