Author

Fernando Guntoro

MRC Prion Unit

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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Genetics· 1

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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 Carolin KoriathiD· 1 shared Davina J. Hensman MossiD· 1 shared Edward J. WildiD· 1 shared Egor DolzhenkoiD· 1 shared Holger HummerichiD· 1 shared Michael A. EberleiD· 1 shared Michael D. FloweriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

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

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

Carolin Koriath, Fernando Guntoro, Penny J. Norsworthy, Egor Dolzhenko, Michael A. Eberle, Davina J. Hensman Moss, Michael D. Flower, Holger Hummerich, Anne Rosser, Sarah J. Tabrizi, Simon Mead, 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.

Journal of Neurology Neurosurgery & Psychiatry · Oct 23, 2024Peer-reviewedGenetics