Research output per year
Research output per year
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Dive into the research topics where Mark Davis is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease
Malfatti, E., Catchpool, T., Nouioua, S., Sihem, H., Fournier, E., Carlier, R. Y., Cardone, N., Davis, M. R., Laing, N. G., Sternberg, D. & Ravenscroft, G., Feb 2022, In: Neuropathology and Applied Neurobiology. 48, 1, e12743.Research output: Contribution to journal › Review article › peer-review
4 Citations (Scopus) -
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Stevanovski, I., Chintalaphani, S. R., Gamaarachchi, H., Ferguson, J. M., Pineda, S. S., Scriba, C. K., Tchan, M., Fung, V., Ng, K., Cortese, A., Houlden, H., Dobson-Stone, C., Fitzpatrick, L., Halliday, G., Ravenscroft, G., Davis, M. R., Laing, N. G., Fellner, A., Kennerson, M., Kumar, K. R., & 1 others, Mar 2022, In: Science Advances. 8, 9, eabm5386.Research output: Contribution to journal › Article › peer-review
Open Access33 Citations (Scopus) -
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., Moore, U., Straub, V., Barresi, R., Guglieri, M., Hayhurst, H., Schaefer, A., Laing, N., Lamont, P. & Ravenscroft, G., Oct 2022, In: Neuromuscular Disorders. 32, p. S94-S95 2 p.Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review
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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Tudini, E., Andrews, J., Lawrence, D. M., King-Smith, S. L., Baker, N., Baxter, L., Beilby, J., Bennetts, B., Beshay, V., Black, M., Boughtwood, T. F., Brion, K., Cheong, P. L., Christie, M., Christodoulou, J., Chong, B., Cox, K., Davis, M. R., Dejong, L., Dinger, M. E., & 49 others, 3 Nov 2022, In: American Journal of Human Genetics. 109, 11, p. 1960-1973 14 p.Research output: Contribution to journal › Review article › peer-review
Open Access2 Citations (Scopus) -
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
The Mackenzie’s Mission Study Team, Archibald, A. D., McClaren, B. J., Caruana, J., Tutty, E., King, E. A., Halliday, J. L., Best, S., Kanga-Parabia, A., Bennetts, B. H., Cliffe, C. C., Madelli, E. O., Ho, G., Liebelt, J., Long, J. C., Braithwaite, J., Kennedy, J., Massie, J., Emery, J. D., McGaughran, J., & 26 others, Nov 2022, In: Journal of Personalized Medicine. 12, 11, 1781.Research output: Contribution to journal › Article › peer-review
Open Access6 Citations (Scopus)
Projects
- 1 Active
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Australian Genomics 2.0
Laing, N., Davis, M. & Nowak, K.
National Health & Medical Research Council NHMRC
1/01/21 → 31/12/23
Project: Research