Concepedia

Carolin K. Scriba

CK

Statistics

Publications

7

Citations

573

H-Index

7

Active since

2020

Affiliations

The University of Western Australia(Current)

Harry Perkins Institute of Medical Research

University College London

National Hospital for Neurology and Neurosurgery

Garvan Institute of Medical Research

Carolin K. Scriba is an author at The University of Western Australia specializing in genetics, medicine, and systems biology.

ORCID

Top concepts

Publications per year

2020–2024

7

Publications

7

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi et al. · Science Advances · 2022 · 173 citations · Full text

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton et al. · Brain · 2020 · 92 citations · Full text

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

David Pellerin, Giulia Gobbo, Madeline Couse et al. · Nature Genetics · 2024 · 31 citations · Full text

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini et al. · Nature Communications · 2024 · 25 citations · Full text

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