Concepedia

Carolin K. Scriba

CK

Statistics

Publications

8

Citations

642

H-Index

8

Active since

2020

Affiliations

The University of Western Australia(Current)

University College London

Harry Perkins Institute of Medical Research

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, medical genetics, and life sciences.

Publications per year

2020–2024

8

Publications

8

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 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 183 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 95 citations · Full text

Life Sciences, Genetics, Neurology +16

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 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +2

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Riccardo Curró, Natalia Dominik, Stefano Facchini et al. · Brain · 2024 · 28 citations · Full text

Life Sciences, Biostatistics, Aging +12

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