Concepedia

Chiara Folland

CF

Statistics

Publications

5

Citations

190

H-Index

5

Active since

2021

Affiliations

Pathwest Laboratory Medicine(Current)

Harry Perkins Institute of Medical Research

The University of Western Australia

The University of Queensland

Royal Brisbane and Women's Hospital

Chiara Folland is an author at Pathwest Laboratory Medicine specializing in molecular genetics, genetics, and muscle disorders.

ORCID

Publications per year

2021–2024

5

Publications

5

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

, , +17

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Macarena Cabrera‐Serrano, Laure Caccavelli, Marco Savarese et al. · Brain · 2021 · 29 citations · Full text

, , +14

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 · 28 citations · Full text

, , +17

Identification of a novel heterozygous <i>DYSF</i> variant in a large family with a dominantly‐inherited dysferlinopathy

Chiara Folland, R. Johnsen, Adriana Botero Gomez et al. · Neuropathology and Applied Neurobiology · 2022 · 15 citations

, , +14

Ablation of the carboxy-terminal end of <i>MAMDC2</i> causes a distinct muscular dystrophy

Fabiola Mavillard, Emilia Servián‐Morilla, Lein Dofash et al. · Brain · 2023 · 14 citations · Full text

, , +17

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