Associate Professor Kevin Carpenter PhD, FFSc(RCPA), FHGSA

Associate Professor
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3123
F: +61 2 98453121
E: Send message
Curriculum vitae


2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Cunningham, S., Kok, C., Spinoulas, A., Carpenter, K., Alexander, I. (2013), AAV-encoded OTC activity persisting to adulthood following delivery to newborn spf(ash) mice is insufficient to prevent shRNA-induced hyperammonaemia. Gene Therapy. 20(12), 1184-1187. [Abstract]
  • Kok, C., Cunningham, S., Carpenter, K., Dane, A., Siew, S., Logan, G., Kuchel, P., Alexander, I. (2013), Adeno-associated Virus-mediated Rescue of Neonatal Lethality in Argininosuccinate Synthetase-deficient Mice. Molecular Therapy. 21(10), 1823-1831. [Abstract]
  • Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013), A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine. In: JIMD Case Reports Volume 8. (pp.11-16).Germany: Springer- Verlag.


  • Patrinos, G., Smith, T., Howard, H., Al-Mulla, F., Chouchane, L., Hadjisavvas, A., Hamed, S., Li, X., Marafie, M., Ramesar, R., Ramos, F., de Ravel, T., El-Ruby, M., Shrestha, T., Sobrido, M., Tadmouri, G., Witsch-Baumgartner, M., Zilfalil, B., Auerbach, A., Carpenter, K., Cutting, G., Dung, V., Grody, W., Hasler, J., Jorde, L., Kaput, J., Macek, M., Matsubara, Y., Padilla, C., Robinson, H., Rojas-Martinez, A., Taylor, G., Vihinen, M., Weber, T., Burn, J., Qi, M., Cotton, R., Rimoin, D. (2012), Human Variome Project country nodes: documenting genetic information within a country. Human Mutation. 33(11), 1513-1519. [Abstract]
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012), Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. In: JIMD Reports - Case and Research Reports, 2012/2. (pp.1-6).Germany: Springer.


  • Alodaib, A., Carpenter, K., Wiley, V., Sim, K., Christodoulou, J., Wilcken, B. (2011), An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples. Annals of clinical biochemistry. 48(5), 468-70. [Abstract]
  • Cunningham, S., Kok, C., Dane, A., Carpenter, K., Kizana, E., Kuchel, P., Alexander, I. (2011), Induction and Prevention of Severe Hyperammonemia in the spf(ash) Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery. Molecular Therapy. 19(5), 854-9. [Abstract]
  • Ho, G., Yonezawa, A., Masuda, S., Inui, K., Sim, K., Carpenter, K., Olsen, R., Mitchell, J., Rhead, W., Peters, G., Christodoulou, J. (2011), Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Human mutation. 32(1), E1976-84. [Abstract]


  • Balasubramaniam, S., Bowling, F., Carpenter, K., Earl, J., Chaitow, J., Pitt, J., Mornet, E., Sillence, D., Ellaway, C. (2010), Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. Journal of Inherited Metabolic Disease. 0(0), 0. [Abstract]


  • Cunningham, S., Spinoulas, A., Carpenter, K., Wilcken, B., Kuchel, P., Alexander, I. (2009), AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice. Molecular Therapy. 17(8), 1340-1346. [Abstract]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., Kirk, E., Lewis, B., McGill, J., Peters, H., Pitt, J., Ranieri, E., Yaplito-Lee, J., Boneh, A. (2009), Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics. 124(2), e241-e248. [Abstract]
  • Ginn, S., Cunningham, S., Zheng, M., Spinoulas, A., Carpenter, K., Alexander, I. (2009), In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver. Gene Therapy. 16(6), 820-823. [Abstract]
  • Shanti, B., Silink, M., Bhattacharya, K., Howard, N., Carpenter, K., Fietz, M., Clayton, P., Christodoulou, J. (2009), Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Journal of Inherited Metabolic Disease. 0(0), 0. [Abstract]
  • Bruce, C., Hoy, A., Turner, N., Watt, M., Allen, T., Carpenter, K., Cooney, G., Febbraio, M., Kraegen, E. (2009), Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance. Diabetes. 58(3), 550-558. [Abstract]


  • Bijarnia, S., Wiley, V., Carpenter, K., Christodoulou, J., Ellaway, C., Wilcken, B. (2008), Glutaric aciduria type I: outcome following detection by newborn screening. Journal of inherited metabolic disease. 31(4), 503-7. [Abstract]
  • Gunja, N., Doyle, E., Carpenter, K., Chan, O., Gilmore, S., Browne, G., Graudins, A. (2008), gamma-Hydroxybutyrate poisoning from toy beads. The Medical journal of Australia. 188(0), 54-5. [Abstract]