Chiara Folland

University of Western Australia

Australia

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Articles (11)

Year:

2025

Year:

2024

Year:

2024

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2024

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2024

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2024

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2023

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2023

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2022

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2022

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2022

Collaborators (12)

Peter Kang

University of Minnesota

UNITED STATES

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Marco Savarese

University of Helsinki

FINLAND

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Henna Tyynismaa

University of Helsinki

FINLAND

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Catriona McLean

Florey Institute of Neuroscience and Mental Health

AUSTRALIA

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Alistair Forrest

University of Western Australia

AUSTRALIA

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Emil Ylikallio

University of Helsinki

FINLAND

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Mridul Johari

University of Helsinki

FINLAND

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Laszlo Tora

FRANCE

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Arianna Tucci

Clinical Reader in Genomic Medicine

Queen Mary University of London

UNITED KINGDOM

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Nigel Laing

University of Western Australia

AUSTRALIA

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Gianina Ravenscroft

University of Western Australia

AUSTRALIA

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William S. Talbot

UNITED STATES

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Chiara Folland

Research Interests

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Articles (11)

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

<i>De novo</i> variants in <i>ATXN7L3</i> lead to developmental delay, hypotonia and distinctive facial features

A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

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

Transcriptome and Genome Analysis Uncovers aDMDStructural Variant

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

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

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy

Collaborators (12)

Peter Kang

Marco Savarese

Henna Tyynismaa

Catriona McLean

Alistair Forrest

Emil Ylikallio

Mridul Johari

Laszlo Tora

Arianna Tucci

Nigel Laing

Gianina Ravenscroft

William S. Talbot

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