Professor John Christodoulou AM

Genetic Medicine, Children's Hospital, Westmead

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

T: +61 2 9845 3452
F: +61 2 9845 1864

Curriculum vitae

Research interests

Rett syndrome, X-linked mental retardation,gene discovery, phenylketonuria, mitochondrial respiratory chain disorders

Current national competitive grants*


Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Christodoulou J, Cooper S
NHMRC Project Grants ($368,510 over 3 years)


Psychosocial and economic impacts of rare diseases on Australian children, families and health professionals
Zurynski Y, Elliott E, Leonard H, Christodoulou J
ARC Linkage Project ($316,781 over 2 years)

* Grants administered through the University of Sydney


Mutation detection; Genomics; Inborn Errors of Metabolism; Neuromuscular disorders; Child health

International links

Italy. (University of Padua) co-supervision of a PhD student from Italy and collaborative research into Rett syndrome.
United Kingdom. (University of Wales College of Medicine) Sharing of patient samples and collaborative research into Rett syndrome.


2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Tucker, E., Wanschers, B., Szklarczyk, R., Mountford, H., Wijeyeratne, X., van den Brand, M., Leenders, A., Rodenburg, R., Reljic, B., Compton, A., Frazier, A., Bruno, D., Christodoulou, J., Endo, H., Ryan, M., Nijtmans, L., Huynen, M., Thorburn, D. (2013), Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression. PLoS Genetics. 9(12), e1004034. [Abstract]
  • Lim, S., Friemel, M., Marum, J., Tucker, E., Bruno, D., Riley, L., Christodoulou, J., Kirk, E., Boneh, A., DeGennaro, C., Springer, M., Mootha, V., Rouault, T., Leimkuhler, S., Thorburn, D., Compton, A. (2013), Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics. 22(22), 4460-4473. [Abstract]
  • Collins, D., Angles, J., Christodoulou, J., Spielman, D., Lindsay, S., Boyd, J., Krockenberger, M. (2013), Severe Subacute Necrotizing Encephalopathy (Leigh-like Syndrome) in American Staffordshire Bull Terrier Dogs. Journal of Comparative Pathology. 148(4), 345-353. [Abstract]
  • Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013), 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics. 21(5), 522-527. [Abstract]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Bao, X., de Klerk, N., Leonard, H., Christodoulou, J. (2013), The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics. 21(3), 266-273. [Abstract]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Ogier de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Tzagoloff, A., Riley, L., Cooper, S., Mina, K., Sivadorai, P., Davis, M., Allcock, R., Kresoje, N., Laing, N., Thorburn, D., Slama, A., Christodoulou, J., Rustin, P. (2013), Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. American Journal of Human Genetics. 93(2), 384-389. [Abstract]
  • Ho, G., Reichardt, J., Christodoulou, J. (2013), In vitro read-through of phenylalanine hydroxylase (pah) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria. Journal of Inherited Metabolic Disease. 36(6), 955-959. [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.
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013), Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases. 8, 193. [Abstract]
  • Liu, X., Xie, D., Yuan, H., de Brouwer, A., Christodoulou, J., Yan, D. (2013), Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. International Journal of Audiology. 52(1), 23-28. [Abstract]
  • Tchan, M., Wilcken, B., Christodoulou, J. (2013), The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports. 9, 81-84. [Abstract]


  • Huppke, P., Brendel, C., Korenke, G., Marquardt, I., Donsante, A., Yi, L., Hicks, J., Steinbach, P., Wilson, C., Elpeleg, O., Møller, L., Christodoulou, J., Kaler, S., Gärtner, J. (2012), Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Human Mutation. 33(8), 1207-1215. [Abstract]
  • Georgiou, T., Ho, G., Vogazianos, M., Dionysiou, M., Nicolaou, A., Chappa, G., Nicolaides, P., Stylianidou, G., Christodoulou, J., Drousiotou, A. (2012), The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. Clinical Biochemistry. 45(7-8), 588-592. [Abstract]
  • Armani, R., Archer, H., Clarke, A., Vasudevan, P., Zweier, C., Ho, G., Williamson, S., Cloosterman, D., Yang, N., Christodoulou, J. (2012), Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. American Journal of Medical Genetics. Part A. 158A(4), 713-719. [Abstract]
  • Christodoulou, J. (2012), Trimethylaminuria: An under-recognised and socially debilitating metabolic disorder. Journal of Paediatrics and Child Health. 48(3), E153-155. [Abstract]
  • Moran, R., Kuilenburg, A., Duley, J., Nabuurs, S., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H., Friedman, N., van Bokhoven, H., de Brouwer, A. (2012), Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. American Journal of Medical Genetics. Part A. 158A(2), 455-460. [Abstract]
  • Williamson, S., Giudici, L., Kilstrup-Nielsen, C., Gold, W., Pelka, G., Tam, P., Grimm, A., Prodi, D., Landsberger, N., Christodoulou, J. (2012), A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. Human Genetics. 131(2), 187-200. [Abstract]
  • Calvo, S., Compton, A., Hershman, S., Lim, S., Lieber, D., Tucker, E., Laskowski, A., Garone, C., Liu, S., Jaffe, D., Christodoulou, J., Fletcher, J., Bruno, D., Goldblatt, J., Dimauro, S., Thorburn, D., Mootha, V. (2012), Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine. 4(118), 118ra10. [Abstract]
  • Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nürnberg, G., Nürnberg, P., Dad, S., Møller, L., Kaler, S., Gärtner, J. (2012), Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. American Journal of Human Genetics. 90(1), 61-68. [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.
  • Ho, G., Gold, W., Williamson, S., Christodoulou, J. (2012), Pathogenicity of C-terminal mutations in CDKL5. Journal of Pediatric Epilepsy. , 185-186.
  • De Greef, E., Christodoulou, J., Alexander, I., Shun, A., O'Loughlin, E., Thorburn, D., Jermyn, V., Stormon, M. (2012), Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients. In: JIMD Reports - Case and Research Reports, 2012/1. (pp.5-11).United Kingdom: Springer.


  • Duley, J., Christodoulou, J., de Brouwer, A. (2011), The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?. Nucleosides, nucleotides & nucleic acids. 30(12), 1129-39. [Abstract]
  • Tucker, E., Hershman, S., Köhrer, C., Belcher-Timme, C., Patel, J., Goldberger, O., Christodoulou, J., Silberstein, J., McKenzie, M., Ryan, M., Compton, A., Jaffe, J., Carr, S., Calvo, S., RajBhandary, U., Thorburn, D., Mootha, V. (2011), Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism. 14(3), 428-434. [Abstract]
  • 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]
  • 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]


  • Kaufmann, W., Glaze, D., Christodoulou, J., Clarke, A., Bahi-Buisson, N., Leonard, H., Bailey, M., Schanen, N., Zappella, M., Renieri, A., Huppke, P., Percy, A. (2010), Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology. 68(6), 944-950. [Abstract]
  • Chung, S., Vanbellinghen, J., Mullins, J., Robinson, A., Hantke, J., Hammond, C., Gilbert, D., Freilinger, M., Ryan, M., Kruer, M., Masri, A., Gurses, C., Ferrie, C., Harvey, K., Shiang, R., Christodoulou, J., Andermann, F., Andermann, E., Thomas, R., Harvey, R., Lynch, J., Rees, M. (2010), Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. Journal of Neuroscience. 30(28), 9612-9620. [Abstract]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giegé, R., Bahlo, M., Christodoulou, J. (2010), Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American journal of human genetics. 87(1), 52-9. [Abstract]
  • Relf, B., Larkin, E., Torres, C., Baur, L., Christodoulou, J., Waters, K. (2010), Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea. Journal of sleep research. 19(2), 349-57. [Abstract]
  • de Brouwer, A., van Bokhoven, H., Nabuurs, S., Arts, W., Christodoulou, J., Duley, J. (2010), PRPS1 mutations: four distinct syndromes and potential treatment. American Journal of Human Genetics. 86(4), 506-518. [Abstract]
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T., Christodoulou, J. (2010), Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics. 13(2), 168-178. [Abstract]
  • Hynes, K., Tarpey, P., Dibbens, L., Bayly, M., Berkovic, S., Smith, R., Al Raisi, Z., Turner, S., Brown, N., Desai, T., Haan, E., Turner, G., Christodoulou, J., Leonard, H., Gill, D., Stratton, M., Gecz, J., Scheffer, I. (2010), Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics. 47(3), 211-6. [Abstract]
  • Harikrishnan, K., Bayles, R., Ciccotosto, G., Maxwell, S., Cappai, R., Pelka, G., Tam, P., Christodoulou, J., El-Osta, A. (2010), Alleviating transcriptional inhibition of the norepinephrine slc6a2 transporter gene in depolarized neurons. The Journal of Neuroscience. 30(4), 1494-1501. [Abstract]
  • Gibson, J., Slobedman, B., Kn, H., Williamson, S., Minchenko, D., El-Osta, A., Stern, J., Christodoulou, J. (2010), Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neuroscience. 11(1), 53. [Abstract]
  • Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., Smeets, E., Leonard, H. (2010), Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics. 47, 242-248. [Abstract]
  • de Brouwer, A., Dudley, J., Christodoulou, J. (2010), Arts Syndrome. GeneReviews. NBK2591, 0.


  • Hamvas, A., Nogee, L., Wegner, D., Depass, K., Christodoulou, J., Bennetts, B., McQuade, L., Gray, P., Deterding, R., Carroll, T., Kammesheidt, A., Kasch, L., Kulkarni, S., Cole, F. (2009), Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes. The Journal of pediatrics. 155(6), 854-859.e1. [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]
  • 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]
  • Zeev, B., Bebbington, A., Ho, G., Leonard, H., de Klerk, N., Gak, E., Vecsler, M., Vecksler, M., Christodoulou, J. (2009), The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology. 72(14), 1242-1247. [Abstract]
  • Bijarnia, S., Shaw, P., Vimpani, A., Smith, R., Pacey, V., O'Grady, H., Christodoulou, J., Sillence, D. (2009), Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. Journal of Paediatrics and Child Health. 45(7-8), 469-472. [Abstract]


  • Ho, G., Walter, J., Christodoulou, J. (2008), Costeff optic atrophy syndrome: New clinical case and novel molecular findings. Journal of inherited metabolic disease. 31 Suppl 2(0), S419-23. [Abstract]
  • Singh, J., Saxena, A., Christodoulou, J., Ravine, D. (2008), MECP2 genomic structure and function: insights from ENCODE. Nucleic acids research. 36(0), 6035-47. [Abstract]
  • Sugiana, C., Pagliarini, D., McKenzie, M., Kirby, D., Salemi, R., Abu-Amero, K., Dahl, H., Hutchison, W., Vascotto, K., Smith, S., Newbold, R., Christodoulou, J., Calvo, S., Mootha, V., Ryan, M., Thorburn, D. (2008), Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. American journal of human genetics. 83(4), 468-78. [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]
  • Kondo, M., Gray, L., Pelka, G., Christodoulou, J., Tam, P., Hannan, A. (2008), Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. The European journal of neuroscience. 27(12), 3342-50. [Abstract]
  • Alexander, I., Cunningham, S., Logan, G., Christodoulou, J. (2008), Potential of AAV vectors in the treatment of metabolic disease. Gene Therapy. 15(11), 831-839. [Abstract]
  • de Brouwer, A., Duley, J., Christodoulou, J. (2008), Arts Syndrome. GeneReviews. 0, 0.