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Contact Details

Email
macgardner@gmail.com
Position
Adjunct Professor
Department
Department of Women's and Children's Health (Dunedin)
Qualifications
MB ChB(Otago) MSc(Edin) FRACP
Research summary
Clinical genetics

Research

Adjunct Professor Gardner is a retired medical geneticist, having an honorary role in the Clinical Genetics Group headed by Professor Stephen Robertson. He is an Otago graduate, who was (1977–93) a member of the Paediatrics Department, before moving to the Genetic Service based at the Royal Children's Hospital in Melbourne (1993–2007), and then consulting part-time with Genetic Health Services New Zealand up until 2017. He had broad clinical interests, with particular focus on inherited cerebellar ataxias, and on chromosomal disorders; he co-authors a textbook Chromosome Abnormalities and Genetic Counseling, of which a 5th edition appeared 2018.

Publications

Barbier, M., Bahlo, M., Pennisi, A., Jacoupy, M., Tankard, R. M., Ewenczyk, C., … Gardner, R. J. M., … Durr, A. (2022). Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25. Annals of Neurology, 92(1), 122-137. doi: 10.1002/ana.26366 Journal - Research Article

Joshi, P., Gardner, M., Lintott, C., & Anderson, T. (2021). Novel presenilin-1 mutation (Ala275Ser) associated with cinical features of dementia with Lewy bodies [Brief report]. Alzheimer Disease & Associated Disorders, 35(4), 350-352. doi: 10.1097/WAD.0000000000000444 Journal - Research Other

Storey, E., & Gardner, R. J. M. (2019). Spinocerebellar ataxia type 20. In M. P. Adam (Ed.), GeneReviews. Seattle, WA: University of Washington. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1471/ Chapter in Book - Research

Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., … Jones, P. P., … Kennedy, M. A., & Skinner, J. R. (2019). Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. Molecular Genetics & Genomic Medicine, 7(1), e00476. doi: 10.1002/mgg3.476 Journal - Research Article

Nguyen, N. M. P., Khawajkie, Y., Mechtouf, N., Rezaei, M., Breguet, M., Kurvinen, E., … Poke, G., … Gardner, R. J. M., … Slim, R. (2018). The genetics of recurrent hydatidiform moles: New insights and lessons from a comprehensive analysis of 113 patients. Modern Pathology, 31, 1116-1130. doi: 10.1038/s41379-018-0031-9 Journal - Research Article

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