Author

Carolin Koriath

LMU KlinikumORCID 0000-0003-1066-4938Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anne RosseriD· 1 shared Davina J. Hensman MossiD· 1 shared Edward J. WildiD· 1 shared Egor DolzhenkoiD· 1 shared Fernando Guntoro· 1 shared Holger HummerichiD· 1 shared Michael A. EberleiD· 1 shared Michael D. FloweriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anne RosserORCID

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1 paper

Recent·Most cited

GeneticsJournal of Neurology Neurosurgery & PsychiatryPeer-reviewedOct 23, 2024

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

Carolin Koriath, Fernando Guntoro, Penny J. Norsworthy…·Edward J. Wild

This study estimates the prevalence of HD phenocopy syndromes, finds clinical distinctions are difficult, and uses whole-genome sequencing to identify one ATXN1 expansion in a subcohort.

5 citations

humanwhole-genome sequencing

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