Carolin Scriba

7PUBLICATIONS
47CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Sensory systemsCell and nuclear divisionCarbon capture engineering (excl. sequestration)Optometry
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Publications (7)

|Apr 27, 2026
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

|Dec 01, 2025
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions.

Anthony Garvey, I Zay Melville, Carolin K Scriba

|Oct 14, 2025
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Bianca R Grosz, Melina Ellis, Shuchi Trivedi

|Oct 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jul 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jun 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

David Pellerin, Giulia F Del Gobbo, Madeline Couse

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Frequent Collaborators

5 joint publications

Ira W Deveson

4 joint publications

Igor Stevanovski

3 joint publications

Garth Nicholson

3 joint publications

Steve Vucic