Profile

Contact Details

Email: macgardner@gmail.com

University Links

Position: Adjunct Professor
Department: Department of Women's and Children's Health (Dunedin)
Qualifications: MB ChB(Otago) MSc(Edin) FCCMG FRACP
Research summary: Clinical genetics

Research

Adjunct Professor Gardner is a retired medical geneticist, having an honorary role in the Laboratory for Genomic Medicine, 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 a 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, and which was highly commended in the basic and clinical sciences category at the British Medical Association Book Awards of 2019; a 6th edition is in preparation in 2023.

Publications

Cortese, A., Beecroft, S. J., Facchini, S., Curro, R., Cabera-Serrano, M., Stevanovski, I., … Gardner, M., … OPDM study group. (2024). A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature Communications, 15, 6327. doi: 10.1038/s41467-024-49950-2 Journal - Research Article

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

2024

Journal - Research Article

2022

Journal - Research Article

2021

Journal - Research Other

2019

Chapter in Book - Research

Journal - Research Article

2018

Authored Book - Other

Gardner, R. J. M., & Amor, D. J. (2018). Gardner and Sutherland's chromosome abnormalities and genetic counseling (5th ed.). New York, NY: Oxford University Press. doi: 10.1093/med/9780199329007.001.0001

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

2017

Journal - Research Article

Méneret, A., Franz, E. A., Trouillard, O., Oliver, T. C., Zagar, Y., Robertson, S. P., … Gardner, R. J. M., … Jasoni, C. L., … Markie, D. (2017). Mutations in the netrin-1 gene cause congenital mirror movements. Journal of Clinical Investigation, 127(11), 3923-3936. doi: 10.1172/jci95442

Glendining, K. A., Markie, D., Gardner, R. J. M., Franz, E. A., Robertson, S. P., & Jasoni, C. L. (2017). A novel role for the DNA repair gene Rad51 in Netrin-1 signalling. Scientific Reports, 7, 39823. doi: 10.1038/srep39823

2016

Journal - Research Article

Gardner, R. J. M. (2016). Chromosomes and clinical anatomy. Clinical Anatomy, 29, 540-546. doi: 10.1002/ca.22714

2015

Journal - Research Article

Franz, E. A., Chiaroni-Clarke, R., Woodrow, S., Glendining, K. A., Jasoni, C. L., Robertson, S. P., Gardner, R. J. M., & Markie, D. (2015). Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations. Journal of the Neurological Sciences, 351(1-2), 140-145. doi: 10.1016/j.jns.2015.03.006

Journal - Research Other

Loveday, C., Tatton-Brown, K., Clarke, M., Westwood, I., Renwick, A., Ramsey, E., … Gardner, M. (2015). Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Human Molecular Genetics, 24(17), 4775-4779. doi: 10.1093/hmg/ddv182

Nickerson, S. L., Marquis-Nicholson, R., Claxton, K., Ashton, F., Leong, I. U. S., Prosser, D. O., … Gardner, R. J. M., & Love, D. R. (2015). SNP analysis and whole exome sequencing: Their application in the analysis of a consanguineous pedigree segregating ataxia. Microarrays, 4(4), 490-502. doi: 10.3390/microarrays4040490

2014

Conference Contribution - Published proceedings: Abstract

Oben, G., Craig, E., & Gardner, R. (2014). Prevalence of congenital anomalies typically requiring surgery in New Zealand. Proceedings of the Paediatric Society of New Zealand 66th Annual Scientific Meeting. (pp. 81). Retrieved from http://fp2.brandish.co.nz/psnz2014/

Gardner, R. J. M. (2014). Mosaicism; and why writing a book is a useful educational exercise. Proceedings of the Australasian Society of Cytogeneticists 20th Interim Scientific Meeting. Retrieved from http://www.conferencedesign.com.au/asoc2014/program.html

Conference Contribution - Verbal presentation and other Conference outputs

Gardner, M. (2014, July). Mosaicism at prenatal diagnosis: A clinical perspective. Invited presentation at the 18th International Conference on Prenatal Diagnosis and Therapy, Brisbane, Australia.

2013

Journal - Research Article

Brookes, C., Prosser, D. O., Love, J. M., Gardner, R. J. M., & Love, D. R. (2013). Diagnostic genetics at a distance: Von Hippel-Lindau disease and a novel mutation. Genetics Research International, 2013, 189196. doi: 10.1155/2013/189196

2012

Authored Book - Research

Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2012). Chromosome abnormalities and genetic counseling (4th ed.). New York, NY: Oxford University Press, 648p.

Journal - Research Article

McGillivray, G., Rosenfeld, J. A., Gardner, R. J. M., & Gillam, L. H. (2012). Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenatal Diagnosis, 32(4), 389-395. doi: 10.1002/pd.3849

2011

Journal - Research Article

Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., … Gardner, R. J. M., … Savarirayan, R. (2011). TRPV4 related skeletal dysplasias: A phenotypic spectrum highlighted by clinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases, 6(1), 37. doi: 10.1186/1750-1172-6-37

2010

Journal - Research Other

Coman, D., Yaplito-Lee, J., La, P., Nasioulas, S., Bruno, D., Slater, H. R., … Gardner, R. J. M. (2010). Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del (X) (p11.4p21.1) [Letter to the editor]. Molecular Genetics & Metabolism, 99(3), 329. doi: 10.1016/j.ymgme.2009.11.006

2009

Journal - Research Article

Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., … Slater, H. R. (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of Medical Genetics, 46, 123-131. doi: 10.1136/jmg.2008.062604

Ganesamoorthy, D., Bruno, D. L., Schoumans, J., Storey, E., Delatycki, M. B., Zhu, D., … Gardner, R. J. M., & Slater, H. R. (2009). Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of Spinocerebellar Ataxia Type 15. Clinical Chemistry, 55(7), 1415-1418. doi: 10.1373/clinchem.2009.124958

Storey, E., Bahlo, M., Fahey, M., Sisson, O., Lueck, C. J., & Gardner, R. J. M. (2009). A new dominantly inherited pure cerebellar ataxia, SCA 30. Journal of Neurology, Neurosurgery & Psychiatry, 80, 408-411. doi: 10.1136/jnnp.2008.159459

2008

Journal - Research Article

Knight, M. A., Hernandez, D., Diede, S. J., Dauwerse, H. G., Rafferty, I., van de Leemput, J., … Gardner, R. J. M., … Singleton, A. B. (2008). A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Human Molecular Genetics, 17(24), 3847-3853. doi: 10.1093/hmg/ddn283

Journal - Research Other

Gardner, R. J. M. (2008). "SCA16" is really SCA15 [Correspondence]. Journal of Medical Genetics, 45(3), 192. doi: 10.1136/jmg.2007.056341

Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J., Rose, E., Smith, R. J., … Dahl, H. H. (2008). Corrigendum to "A novel splice site mutation in EYA4 causes DFNA10 hearing loss" [Am. J. Med. Genet 143(14): 1599-1604]. American Journal of Medical Genetics Part A, 146A, 1099. doi: 10.1002/ajmg.a.32134

2007

Journal - Research Article

van de Leemput, J., Chandran, J., Knight, M. A., Holtzclaw, L. A., Scholz, S., Cookson, M. R., … Gardner, R. J. M., … Singleton, A. B. (2007). Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genetics, 3(6), e108. doi: 10.1371/journal.pgen.0030108

Hildebrand, M. S., Coman, D., Yang, T., Gardner, R. J. M., Rose, E., Smith, R. J. H., … Dahl, H.-H. M. (2007). A novel spice site mutation in EYA4 causes DFNA10 hearing loss. American Journal of Medical Genetics Part A, 143A, 1599-1604. doi: 10.1002/ajmg.a.31860

Baker, N. L., Mörgelin, M., Pace, R. A., Peat, R. A., Adams, N. E., Gardner, R. J. M., … Lamandé, S. R. (2007). Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology, 62(4), 390-405. doi: 10.1002/ana.21213

Journal - Research Other

Gardner, R. J. M., Umstad, M. P., & Hale, L. G. (2007). MURCS and thenar hypoplasia. Clinical Dysmorphology, 16(4), 275-276. doi: 10.1097/MCD.0b013e32825ea677

Coman, D. J., & Gardner, R. J. M. (2007). Deletions that reveal recessive genes [News and commentary]. European Journal of Human Genetics, 15, 1103-1104. doi: 10.1038/sj.ejhg.5201919

2001

Journal - Research Article

Kennerson, M. L., Zhu, D., Gardner, R. J. M., Storey, E., Merory, J., Robertson, S. P., & Nicholson, G. A. (2001). Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy maps to chromosome 19p12-p13.2. American Journal of Human Genetics, 69(4), 883-888.

1999

Journal - Research Article

Gardner, R. J. M., Gaff, C. L., Macrae, F. A., St John, D. J. B., Hopkins, J., Guilford, P. J., & Reeve, A. E. (1999). E-cadherin unlikely to be a common "low penetrance" gene for colorectal cancer. American Journal of Medical Genetics, 84(2), 169-171.

Wilcox, S. A., Osborn, A. H., Allen-Powell, D. R., Maw, M. A., Dahl, H.-H. M., & Gardner, R. J. M. (1999). Connexin26 deafness in several interconnected families. Journal of Medical Genetics, 36, 383-385.

1997

Journal - Research Article

Denoyelle, F., Weil, D., Maw, M. A., Wilcox, S. A., Lench, N. J., Allen-Powell, D. R., … Gardner, R. J. M., & Petit, C. (1997). Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics, 6(12), 2173-2177. doi: 10.1093/hmg/6.12.2173

1995

Journal - Research Article

Maw, M. A., Allen-Powell, D. R., Goodey, R. J., Stewart, I. A. M., Nancarrow, D. J., Hayward, N. K., & Gardner, R. J. M. (1995). The contribution of the DFNBI locus to neurosensory deafness in a Caucasian population. American Journal of Human Genetics, 57(3), 629-635.