Research output per year
Research output per year
Personal profile
Biography
Graduate Research Assistant with the Rare Disease Genetics and Functional Genomics Group at HPIMR
Education/Academic qualification
Genetics, Bachelor of Philosophy (Honours), Investigating the genetics of rare neuromuscular disorders, The University of Western Australia
Feb 2017 → Dec 2020
Award Date: 1 Dec 2020
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Dive into the research topics where Chiara Folland is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Folland, C., Johnsen, R., Gomez, A. B., Trajanoski, D., Davis, M. R., Moore, U., Straub, V., Barresi, R., Guglieri, M., Hayhurst, H., Schaefer, A. M., Laing, N. G., Lamont, P. J. & Ravenscroft, G., Dec 2022, In: Neuropathology and Applied Neurobiology. 48, 7, 10 p., e12846.Research output: Contribution to journal › Article › peer-review
9 Citations (Scopus) -
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy
Lysko, D. E., Meireles, A. M., Folland, C., McNamara, E., Laing, N. G., Lamont, P. J., Ravenscroft, G. & Talbot, W. S., Sept 2022, In: Human Mutation. 43, 9, p. 1216-1223 8 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets
Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., Osei-Owusu, I., O'Heir, E., O'Leary, M., Pais, L., Stafki, S. A., Daugherty, A. L., Folland, C., Peric, S., Fahmy, N., Udd, B., Horáková, M., Łusakowska, A., Manoj, R. & Nalini, A. & 19 others, , Apr 2025, In: Genetics in Medicine. 27, 4, p. 1098-3600 12 p., 101336.Research output: Contribution to journal › Article › peer-review
2 Citations (Web of Science) -
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
De Winter, J., Van de Vondel, L., Ermanoska, B., Monticelli, A., Isapof, A., Cohen, E., Stojkovic, T., Hackman, P., Johari, M., Palmio, J., Waldrop, M. A., Meyer, A. P., Nicolau, S., Flanigan, K. M., Töpf, A., Diaz-Manera, J., Straub, V., Longman, C., McWilliam, C. A. & Orbach, R. & 18 others, , Jun 2025, In: Genetics in Medicine. 27, 6, p. 1-13 13 p., 101399.Research output: Contribution to journal › Article › peer-review
4 Citations (Web of Science) -
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
Dofash, L. N. H., Miles, L. B., Saito, Y., Rivas, E., Calcinotto, V., Oveissi, S., Serrano, R. J., Templin, R., Ramm, G., Rodger, A., Haywood, J., Ingley, E., Clayton, J. S., Taylor, R. L., Folland, C. L., Groth, D., Hock, D. H., Stroud, D. A., Gorokhova, S. & Donkervoort, S. & 21 others, , 1 May 2025, In: Brain. 148, 5, p. 1707-1722 16 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)