Author

Shoko Komatsuzaki

University of WürzburgORCID 0000-0002-8075-2303Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alison Ross· 1 shared Andrea Louise VincentiD· 1 shared Andrew Neil ShellingiD· 1 shared Annelies DheedeneiD· 1 shared Cathérine CassimaniD· 1 shared Charlotte MattoniD· 1 shared Christine Armstrong· 1 shared David J. BunyaniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison Ross

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1 paper

Recent·Most cited

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van de Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D’haene, Annelies Dheedene, Martine Cools, Shoko Komatsuzaki, Ewelina Preizner-Rzucidło, Alison Ross, Christine Armstrong, Wendy Watkins, , Elfride B. W. De Baere

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

Human Mutation · Jan 1, 2026Peer-reviewedGenetic & Genomic Medicine