2012

• 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.

2011

• 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]

2010

• 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]

2009

• 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]
• 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 : the journal of the American Society of Gene Therapy. 17(8), 1340-6. [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]

2008

• 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]

2007

• Chiong, M., Procopis, P., Carpenter, K., Wilcken, B. (2007), Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course. Pediatric neurology. 37(4), 283-286. [Abstract]
• Chiong, M., Carpenter, K., Christodoulou, J. (2007), Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report. Journal of inherited metabolic disease. 30(3), 405-405. [Abstract]
• Tan, E., Wiley, V., Carpenter, K., Wilcken, B. (2007), Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Molecular genetics and metabolism. 90(4), 446-448. [Abstract]
• Chiong, M., Sim, K., Carpenter, K., Rhead, W., Ho, G., Olsen, R., Christodoulou, J. (2007), Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular genetics and metabolism. 92(1-2), 109-14. [Abstract]