2026
Conference Contribution - Published proceedings: Abstract
George, P., Nehoff, H., Crozier, I., & Doudney, K. (2026). Pyrophosphatase 2 (PPA2) enzymes are crucial for cardiomyocyte function, where they contribute to mitochondrial ETC homeostasis. European Journal of Preventive Cardiology, 33(Suppl. 1), PO58. doi: 10.1093/eurjpc/zwag115.057
2025
Journal - Research Article
Stevens, A. J., Kennedy, M. A., Doudney, K., Kidd, M. J. A., & Rucklidge, J. J. (2025). Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment. Psychiatry Research Case Reports. Advance online publication. doi: 10.1016/j.psycr.2025.100254
Conference Contribution - Verbal presentation and other Conference outputs
Doudney, K. (2025, September). A tale of two triggers: Heart failure in families affected by inherited PPA2 deficiency. Verbal presentation at the Queenstown Research Week (QRW) Heart Satellite Meeting, Christchurch, New Zealand.
2024
Journal - Research Article
Guimier, A., Gueguen, P., Médéric, J., Hurst, A. C. E., Boutaud, L., Derive, N., … Doudney, K., … Amiel, J. (2024). Antenatal presentation of mitochondrial inorganic pyrophosphatase (PPA2) deficiency: A report on two cases. European Journal of Human Genetics, 32(Suppl. 2), P13.026.D. doi: 10.1038/s41431-024-01734-4
2023
Conference Contribution - Poster Presentation (not in published proceedings)
Achleitner, M., Guimier, A., Nehoff, H., Crozier, I., Thompson, R., Dunn, K., … Doudney, K. (2023, June). Inherited mitochondrial pyrophosphatase 2 dysfunction in response to infection and alcohol metabolism. Poster session presented at the European Society of Human Genetics (ESHG) European Human Genetics Hybrid Conference, Glasgow, UK.
2022
Other Research Output
Doudney, K. (2022, November). Sudden cardiac death associated with inherited pyrophosphatase 2 dysfunction. School of Biological Sciences Seminar, University of Canterbury, Christchurch, New Zealand. [Department Seminar].
Doudney, K. (2022, February). Heart muscle crisis identified in further cases of inherited pyrophosphatase 2 dysfunction. UOC Research Seminar Series, University of Otago, Christchurch, New Zealand. [Research Presentation].
2021
Journal - Research Article
Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., … Kennedy, H. L., George, P. M., Kidd, A., … Doudney, K. (2021). PPA2-associated sudden cardiac death: Extending the clinical and allelic spectrum in 20 new families. Genetics in Medicine, 23, 2415-2425. doi: 10.1038/s41436-021-01296-6
2019
Journal - Research Article
Watson, G. M., Chan, C. W., Belluscio, L., Doudney, K., Lacey, C. J., Kennedy, M. A., & Bridgman, P. (2019). Comparing the variants of takotsubo syndrome: An observational study of the ECG and structural changes from a New Zealand tertiary hospital. BMJ Open, 9(5), e025253. doi: 10.1136/bmjopen-2018-025253
Conference Contribution - Published proceedings: Abstract
Doudney, K., Lacey, C. J., Bridgman, P. G., Mulder, R. T., Zarifeh, J. J., Kimber, B., Cadzow, M., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2019). Rare copy number variants involving cardiac function and development genes detected in earthquake induced takotsubo cardiomyopathy patients. European Journal of Human Genetics, 27(Suppl. 1), (pp. 160). doi: 10.1038/s41431-019-0407-4
2018
Journal - Research Article
Lacey, C. J., Doudney, K., Bridgman, P. G., George, P. M., Mulder, R. T., Zarifeh, J. J., Kimber, B., Cadzow, M. J., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2018). Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. Scientific Reports, 8, 7548. doi: 10.1038/s41598-018-25827-5
Journal - Research Other
Watson, G. M., Chan, C. W., Doudney, K., & Bridgman, P. G. (2018). A population-based study of the diabetes paradox in stress cardiomyopathy. New Zealand Medical Journal, 131(1485), 88-89. Retrieved from https://www.nzma.org.nz/journal
Conference Contribution - Published proceedings: Abstract
Watson, G., Chan, C., Doudney, K., Lacey, C., & Bridgman, P. (2018). The variants of Takotsubo Syndrome differ in more ways than just the echo pattern. Heart, Lung & Circulation, 27(Suppl. 1), (pp. S16). doi: 10.1016/j.hlc.2018.05.135
2017
Conference Contribution - Published proceedings: Abstract
Doudney, K. (2017). Collaborative opportunities at Canterbury Health Laboratories: A tertiary-level diagnostics laboratory. New Zealand Medical Journal, 130(1459), (pp. 79-80). Retrieved from http://www.nzma.org.nz/journal
Working Paper; Discussion Paper; Technical Report
Lacey, C. J., Doudney, K., Bridgman, P. G., George, P. M., Mulder, R. T., Zarifeh, J. A., Kimber, B., Cadzow, M. J., Black, M. A., Merriman, T. R., … Pearson, J. F., Cameron, V. A., & Kennedy, M. A. (2017). Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. bioRxiv. doi: 10.1101/144675
2016
Journal - Research Article
Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E. R., Potter, H., MacKay, R., … King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C. M., … George, P. M., Doudney, K., & Mayr, J. A. (2016). Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. American Journal of Human Genetics, 99(3). doi: 10.1016/j.ajhg.2016.06.027
Conference Contribution - Published proceedings: Abstract
Doudney, K., Kennedy, H., Haack, T. B., Hartill, V., Mataković, L., Baumgartner, E., … MacKay, R., … King, R., Mead, S., Crozier, I., Chan, W., Florkowski, C., … George, P., … Mayr, J. (2016). Mitochondrial inorganic pyrophosphatase (PPA2) mutations underlie a spectrum of cardiomyopathy disorders. European Journal of Human Genetics, 24(E-Suppl. 1), (pp. 41). [Abstract]
Conference Contribution - Verbal presentation and other Conference outputs
Kidd, A., Hughes, J., Millow, E., Watt, J., Doudney, K., Bickley, V., … Kennedy, H., … King, R., & Porter, R. (2016, October). Genetic investigations in adults presenting to PSAID (Psychiatric Services for Adults with Intellectual Disabilities). Invited presentation at the Royal Australian & New Zealand College of Psychiatrists New Zealand Conference: Recover, Rebuild, Regenerate, Christchurch, New Zealand.
2015
Journal - Research Article
Balasubramanain, D., Deng, A. X., Doudney, K., Hampton, M. B., & Kennedy, M. A. (2015). Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line. Neuropharmacology, 99, 79-88. doi: 10.1016/j.neuropharm.2015.06.018
Chua, E. W., Cree, S., Barclay, M. L., Doudney, K., Lehnert, K., Aitchison, A., & Kennedy, M. A. (2015). Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers. Pharmacogenomics Journal, 15, 414-421. doi: 10.1038/tpj.2015.9
Conference Contribution - Verbal presentation and other Conference outputs
Kennedy, H., Doudney, K., Mina, K., Potter, H., Florkowski, C., King, R., MacKay, R., … Crozier, I., & George, P. (2015, August-September). Exome sequencing identifies rare variants in a family with alcohol-induce sudden cardiac death. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
Kennedy, M., Doudney, K., Bickley, V., Bridgman, P., Cameron, V., Cadzow, M., Black, M., Merriman, T., … Miller, A., Zarifeh, J., Kimber, B., George, P., & Lacey, C. (2015, August-September). Genomes, earthquakes and broken hearts. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
2014
Journal - Research Article
Stevens, A. J., Stuffrein-Roberts, S., Cree, S. L., Gibb, A., Miller, A. L., Doudney, K., Aitchison, A., Eccles, M. R., Joyce, P. R., … Kennedy, M. A. (2014). G-quadruplex structures and CpG methylation cause drop-out of the maternal allele in polymerase chain reaction amplification of the imprinted MEST gene promoter. PLoS ONE, 9(12), e113955. doi: 10.1371/journal.pone.0113955
2013
Conference Contribution - Published proceedings: Abstract
Stevens, A. J., Stuffrein-Roberts, S., Macmil, S., Gibb, A., Doudney, K., Miller, A. L., Bagshaw, A., Aitchison, A., Eccles, M. R., Joyce, P. R., … Kennedy, M. A. (2013). Allelic-dropout during PCR of the imprinted MEST promoter caused by interaction between G-quadruplex structures and DNA methylation. Proceedings of the 4th International Meeting on G-quadruplex Nucleic Acids: From Structure to Chemistry and Biology. 83. Retrieved from http://www.g4meeting2013.com/
2012
Journal - Research Article
Robinson, A., Escuin, S., Doudney, K., Vekemans, M., Stevenson, R. E., Greene, N. D. E., … Stanier, P. (2012). Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Human Mutation, 33(2), 440-447. doi: 10.1002/humu.21662
Conference Contribution - Poster Presentation (not in published proceedings)
Stevens, A., Stuffrein-Roberts, S., Miller, A., Gibb, A., Doudney, K., Bagshaw, A., Aitchison, A., Eccles, M., … Kennedy, M. (2012, August). G-quadruplex DNA structures, genomic imprinting and allelic drop-out in PCR. Poster session presented at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
Conference Contribution - Verbal presentation and other Conference outputs
Stevens, A. J., Stuffrein-Roberts, S., Miller, A. L., Gibb, A., Doudney, K., Bagshaw, A., Aitchison, A., Eccles, M. R., … Kennedy, M. A. (2012, August). G-quadruplex DNA structures, genomic imprinting and allelic drop-out in PCR. Verbal presentation at the Queenstown Molecular Biology (QMB) Meetings, Queenstown, New Zealand.
2011
Conference Contribution - Published proceedings: Abstract
Harley, J. A., Kennedy, M. A., Doudney, K., Allington, M., Pearson, J., Black, M., & Joyce, P. R. (2011). Antidepressants cause specific changes in the rat peripheral blood transcriptome. Biological Psychiatry. 69(9, Suppl. 1), (pp. 89S). [Abstract]
2010
Conference Contribution - Published proceedings: Abstract
Harley, J. A., Doudney, K., Allington, M. A., McNoe, L., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2010). Antidepressant specific changes in rat whole blood gene expression identified by gene-chip analysis. Proceedings of the Australasian Society of Clinical and Experimental Pharmacologists and Toxicologists New Zealand Annual Scientific Meeting and the 6th Annual Carney Pharmacogenomics Symposium. ASCEPT. Retrieved from http://www.ascept.org.nz/
2009
Journal - Research Article
Doudney, K., Harley, J. A., Pearson, J. F., Miller, A., Aitchison, A., Kennedy, M. A., Porter, R. J., Elmslie, J. L., & Joyce, P. R. (2009). Upstream genetic variant near INSIG2, influences response to carnitine supplementation in bipolar patients with valproate-induced weight gain. Acta Neuropsychiatrica, 21(3), 133-140. doi: 10.1111/j.1601-5215.2009.00379.x
Journal - Research Other
Doudney, K., Grinham, J., Whittaker, J., Lynch, S. A., Thompson, D., Moore, G. E., … Stanier, P. (2009). Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. American Journal of Medical Genetics Part A, 149A(7), 1585-1589. doi: 10.1002/ajmg.a.32937
Conference Contribution - Published proceedings: Abstract
Doudney, K., Harley, J. A., Pearson, J. F., Miller, A., Aitchison, A., Kennedy, M. A., Porter, R. J., Elmslie, J. L., & Joyce, P. R. (2009). Upstream genetic variant near INSIG2 is associated with adipose metabolism in bipolar patients with valproate induced weight gain. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf
Kennedy, M. A., Deng, X. Y., Doudney, K., McHugh, P. C., & Joyce, P. R. (2009). Exploring gene regulation by antidepressant drugs. Proceedings of the American Society of Human Genetics 59th Annual Meeting. (pp. 633). Retrieved from http://www.ashg.org/2009meeting/pdf/poster_4up.pdf
Doudney, K., Harley, J. A., Deng, X. Y., Allington, M., Waldvogel, H. J., Faull, R. L. M., Joyce, P. R., & Kennedy, M. A. (2009). Brain and peripheral gene expression changes in rats after two weeks of exposure to antidepressant drugs. Proceedings of the American Society of Human Genetics 59th Annual Meeting. (pp. 626). Retrieved from http://www.ashg.org/2009meeting/pdf/poster_4up.pdf
Harley, J. A., Doudney, K., Allington, M., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2009). Blood mRNA changes induced by antidepressants. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf
Deng, S., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009). Gene regulation by drugs used to treat mood disorders. Proceedings of the 5th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.otago.ac.nz/christchurch/otago019049.pdf
Harley, J. A., Doudney, K., Allington, M., Pearson, J., Black, M., Joyce, P. R., & Kennedy, M. A. (2009). Blood mRNA changes induced by antidepressants: Future biomarkers to tailor depression treatment? Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]
Doudney, K., Harley, J. A., Deng, X. Y., Allington, M., Waldvogel, H. J., Faull, R. L. M., Joyce, P. R., & Kennedy, M. A. (2009). Gene expression changes in rat brain following antidepressant drug treatment. Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]
Deng, X., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009). Gene regulation by drugs used to treat mood disorders. Proceedings of the ComBio2009 Conference. [CD-ROM] [Abstract]
Conference Contribution - Poster Presentation (not in published proceedings)
Deng, X. S., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2009, September). Gene regulation by drugs used to treat mood disorders. Poster session presented at the Third Annual Division of Health Sciences Research Forum, Wellington, New Zealand.
2008
Conference Contribution - Published proceedings: Abstract
Deng, X., McHugh, P. C., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2008). Gene regulation by antidepressant drugs. Proceedings of the 4th Annual Carney Pharmacogenomics Symposium. Retrieved from http://www.chmeds.ac.nz/research/carneycentre/symposium.htm
Harley, J. A., Doudney, K., Joyce, P. R., & Kennedy, M. A. (2008). Search for the black bile: Biomarkers of antidepressant exposure. Proceedings of the 8th Annual Australasian Microarray and Associated Technologies (AMATA) Conference. Retrieved from http://www.amata.org.au/index.php/resources/2008-conference-abstracts
2007
Journal - Research Article
Dunlevy, L. P. E., Chitty, L. S., Burren, K. A., Doudney, K., Stojilkovic-Mikic, T., Stanier, P., … Greene, N. D. E. (2007). Abnormal folate metabolism in foetuses affected by neural tube defects. Brain, 130, 1043-1049.
Andreou, A. M., Pauws, E., Jones, M. C., Singh, M. K., Bussen, M., Doudney, K., … Stanier, P. (2007). TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. American Journal of Human Genetics, 81, 700-712.
Conference Contribution - Published proceedings: Abstract
Doudney, K., Ybot-Gonzalez, P., Greene, N., Murdoch, J., Copp, A., & Stanier, P. (2007). Mouse models towards human neural tube defect genes. New Zealand Medical Journal, 120(1252). Retrieved from http://journal.nzma.org.nz/journal/120-1252/2506/content.pdf
Professional Practice Fellow Honorary Research Fellow