Professor John Christodoulou

AM
Professor
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3452
Fax +61 2 9845 1864

Curriculum vitae Curriculum vitae

Map

Biographical details

Research interests

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

Current projects

1. Gene discovery - Mendelian disorders

2. Development of a new therapy for PKU

3. Genetic and functional studies of the mitochondrial respiratory chain disorders

4. Understanding the biology of Rett syndrome and related disorders

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

Selected grants

2014

  • NanoString nCounter Platform; deFazio A, Alexander I, Booth D, Byrne J, Christodoulou J, Clarke C, Cunningham A, George J, Graham J, Harman A, Liddle C, Mann G; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2012

  • Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.; Christodoulou J, Cooper S; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • Psychosocial and Economic Impacts of Rare Diseases on Australian Children, Families and Health Professionals; Zurynski Y, Elliott E, Leonard H, Leonard H, Christodoulou J; Australian Research Council (ARC)/Linkage Projects (LP).
  • ION TORRENT PERSONAL GENOME MACHINE (PGM).; North K, Alexander I, Alexander S, Christodoulou J, Catchpoole D, Clarke N; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Improving the genetic diagnosis of neuromuscular diseases; Dale R, Christodoulou J, Brilot-Turville F, Yang N, Clarke N, Cooper S; Rebecca L Cooper Medical Research Foundation/Equipment Grant.
  • In vivo gene transfer and phenotype correction of normal and urea-cycle deficient primary human hepatocytes in chimeric mouse-human livers: Towards gene therapy for metabolic liver disease; Alexander I, Braet F, Christodoulou J, Kuchel P, Carpenter K; National Health and Medical Research Council (NHMRC)/Project Grants.

2010

  • Study of MeCP2 Gene Targets; Christodoulou J; DVC Research/Bridging Support Grant.
  • Westmead Correlative Light and Electron Microscope Suite; North K, Jones C, Christodoulou J, Murray R, O'Neill G, Cantrill L, Cunningham A, Kefford R, Clarke C, Henderson B, Bendall L, Turville S, Reddel R, Tam P, Robinson P, Bryan T, Braithwaite A; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • Identification and Characterisation of Novel Cyclin-Dependent Kinase-like 5 Targets: Implications for Rett Syndrome and Related Neurodevelopmental Disorders; Christodoulou J, Tam P; National Health and Medical Research Council (NHMRC)/Project Grants.

2007

  • Functional Significance of MeCP2 Target Genes in the Pathogenesis of Rett Syndrome; Christodoulou J, Tam P, El-Osta A; National Health and Medical Research Council (NHMRC)/Project Grants.

2004

  • Not Known - To be advised; Christodoulou J; RG Arnott Foundation/Research Grants.

2000

  • Biochemical and molecular genetic evaluation of multiple respiratory chain defects; Christodoulou J, Trounce I; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications & creative works

Download citations: PDF RTF Endnote

Book Chapters

  • Christodoulou, J., Williamson, S., Ellaway, C. (2005). Rett Syndrome. In Jurgen Fuchs & Maurizio Podda (Eds.), Encyclopedia of Medical Genomics and Proteomics, (pp. 1-7). Europe: Marcel Dekker.
  • Christodoulou, J., Wilcken, B. (2004). Biochemical Genetic Emergencies. In Henry Kilham & David Isaacs (Eds.), The Childrens Hospital at Westmead Handbook: Clinical practice guidelines for paediatrics, (pp. 104-111). Sydney: McGraw-Hill Education.
  • Christodoulou, J. (2003). Genetic metabolic disorders. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 332-346). Australia: Child and Adolescent Mental Health Statewide Network.
  • Christodoulou, J. (2002). A clinical approach to inborn errors of metabolism. In Rudolph AM, Kamei RK, Overby KJ (Eds.), Rudolphs Fundamentals of Pediatrics, (pp. 221-252). United Kingdom: McGraw-Hill Education.
  • Christodoulou, J., Barlow, R. (2001). It's all in our genes. In Kim Oates, Kathryn Currow & Wendy Hu (Eds.), Child Health: A Practical Manual for General Practice, (pp. 37-46). Australia: MacLennan & Petty.

Journals

  • Lim, S., Smith, K., Stroud, D., Compton, A., Tucker, E., Dasvarma, A., Gandolfo, L., Marum, J., McKenzie, M., Peters, H., Procopis, P., Wilcken, B., Christodoulou, J., et al (2014). A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome. American Journal of Human Genetics, 94(2), 209-222. [More Information]
  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Menezes, M., Riley, L., Christodoulou, J. (2014). Mitochondrial Respiratory Chain Disorders in Childhood: Insights into Diagnosis and Management in the New Era of Genomic Medicine. Biochimica et Biophysica Acta (Molecular and Cell Biology of Lipids), 1840 (4), 1368-1379. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]
  • 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. [More Information]
  • 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. JIMD Reports - Case and Research Reports, 8, 11-15.
  • 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. [More Information]
  • 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 (JIMD), 36(6), 955-959. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (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. [More Information]
  • Lim, S., Friemel, M., Marum, J., Tucker, E., Bruno, D., Riley, L., Christodoulou, J., Kirk, E., Boneh, A., DeGennaro, C., et al (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. [More Information]
  • Tucker, E., Wanschers, B., Szklarczyk, R., Mountford, H., Wijeyeratne, X., van den Brand, M., Leenders, A., Rodenburg, R., Reljic, B., Compton, A., Christodoulou, J., et al (2013). Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression. PLoS Genetics, 9(12), 1-15. [More Information]
  • 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(1), 1-11. [More Information]
  • 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. [More Information]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Christodoulou, J., et al (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21(3), 266-273. [More Information]
  • Tchan, M., Wilcken, B., Christodoulou, J. (2013). The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports - Case and Research Reports, 9, 81-84. [More Information]
  • 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. [More Information]
  • Cotton, R., Auerbach, A., Brown, A., Carrera, P., Christodoulou, J., Claustres, M., Compton, J., Cox, D., De Baere, E., den Dunnen, J., et al (2012). A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Human Mutation, 28(10), 931-932. [More Information]
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. JIMD Reports - Case and Research Reports, 5, 1-6.
  • 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. JIMD Reports - Case and Research Reports, 4, 5-12.
  • Huppke, P., Brendel, C., Korenke, G., Marquardt, I., Donsante, A., Yi, L., Hicks, J., Steinbach, P., Wilson, C., Elpeleg, O., Christodoulou, J., et al (2012). Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase. Human Mutation, 33(8), 1207-1215. [More Information]
  • Calvo, S., Compton, A., Hershman, S., Lim, S., Lieber, D., Tucker, E., Laskowski, A., Garone, C., Liu, S., Jaffe, D., Christodoulou, J., et al (2012). Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine, 4(118), 1-15. [More Information]
  • Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., et al (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. [More Information]
  • Christodoulou, J., Ho, G., Gold, W., Williamson, S. (2012). Pathogenicity of C-terminal mutations in CDKL5. Journal of Pediatric Epilepsy, 1, 185-186. [More Information]
  • Moran, R., van Kuilenburg, A., Duley, J., Nabuurs, S., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H., Friedman, N., van Bokhoven, H., et al (2012). Phosphoribosylpyrophosphate s 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. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Christodoulou, J. (2012). Trimethylaminuria: An under-recognised and socially debilitating metabolic disorder. Journal of Paediatrics and Child Health, 48(3), E153-E155. [More Information]
  • 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), 468-470. [More Information]
  • 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-E1984. [More Information]
  • Tucker, E., Hershman, S., Kohrer, C., Belcher-Timme, C., Patel, J., Goldberger, O., Christodoulou, J., Silberstein, J., McKenzie, M., Ryan, M., et al (2011). Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism, 14(3), 428-434. [More Information]
  • Duley, J., Christodoulou, J., de Brouwer, A. (2011). The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes? Nucleosides, Nucleotides and Nucleic Acids: An International Journal for Rapid Communication, 30(12), 1129-1139. [More Information]
  • 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. [More Information]
  • de Brouwer, A., Dudley, J., Christodoulou, J. (2010). Arts Syndrome. Australian Rural Doctor.
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Cloosterman, D., Bennetts, B., Christodoulou, J., et al (2010). Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics, 13(2), 168-178. [More Information]
  • Gibson, J., Slobedman, B., Harikrishnan, K., 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(53), 53-1-53-16. [More Information]
  • Hynes, K., Tarpey, P., Dibbens, L., Bayly, M., Berkovic, S., Smith, R., Al Raisi, Z., Turner, S., Brown, N., Desai, T., Christodoulou, J., et al (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), 211-216. [More Information]
  • Relf, B., Larkin, E., de 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), 349-357. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (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), 52-59. [More Information]
  • Chung, S., Vanbellinghen, J., Mullins, J., Robinson, A., Hantke, J., Hammond, C., Gilbert, D., Freilinger, M., Ryan, M., Kruer, M., Christodoulou, J., et al (2010). Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. The Journal of Neuroscience, 30(28), 9612-9620. [More Information]
  • 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. [More Information]
  • Neul, J., Kaufmann, W., Glaze, D., Christodoulou, J., Clarke, A., Bahi-Buisson, N., Leonard, H., Bailey, M., Schanen, N., Zappella, M., et al (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944-950. [More Information]
  • Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., et al (2010). Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics, 47, 242-248.
  • Bijarnia, S., 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, 469-472. [More Information]
  • 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 (JIMD), Short Report #166 - online, 1-11. [More Information]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]
  • Hamvas, A., Nogee, L., Wegner, D., DePass, K., Christodoulou, J., Bennetts, B., McQuade, L., Gray, P., Deterding, R., Carroll, T. (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. [More Information]
  • Ben Zeev, B., Bebbington, A., Ho, G., Leonard, H., De Klerk, N., Gak, E., Vecksler, M., Christodoulou, J. (2009). The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology, 72(14), 1242-1247. [More Information]
  • de Brouwer, A., Duley, J., Christodoulou, J. (2008). Arts Syndrome. GeneReviews.
  • Ho, G., Walter, J., Christodoulou, J. (2008). Costeff optic atrophy syndrome: New clinical case and novel molecular findings. Journal of Inherited Metabolic Disease (JIMD), 31(SUPPL. 2), S419-S423. [More Information]
  • 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. European Journal of Neuroscience, 27(12), 3342-3350. [More Information]
  • 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 (JIMD), 31(4), 503-507. [More Information]
  • Singh, J., Saxena, A., Christodoulou, J., Raine, D. (2008). MECP2 genomic structure and function: insights from ENCODE. Nucleic Acids Research, 36(19), 6035-6047. [More Information]
  • Sugiana, C., Pagliarini, D., McKenzie, M., Kirby, D., Salemi, R., Abu-Amero, K., Dahl, H., Hutchison, W., Vascotto, K., Smith, S., Christodoulou, J., et al (2008). Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. American Journal of Human Genetics, 83(4), 468-478. [More Information]
  • 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. [More Information]
  • de Brouwer, A., Williams, K., Duley, J., van Kuilenburg, A., Nabuurs, S., Egmont-Peterson, M., Lugtenberg, D., Zoetekouw, L., Banning, M., Roeffen, M., Ouvrier, R., Christodoulou, J., et al (2007). Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. American Journal of Human Genetics, 81(3), 507-518. [More Information]
  • Singh-Grewal, D., Chaitow, J., Aksentijevich, I., Christodoulou, J. (2007). Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Annals of the Rheumatic Diseases, 66(11), 1541-1541. [More Information]
  • Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M., Sampson, J., et al (2007). Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of Medical Genetics, 44(2), 148-152. [More Information]
  • Hardwick, S., Reuter, K., Williamson, S., Vasudevan, V., Donald, J., Slater, K., Bennetts, B., Bebbinton, A., Leonard, H., Williams, S., Christodoulou, J., et al (2007). Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European Journal of Human Genetics, 15(12), 1218-1229. [More Information]
  • Chan, P., Duraisamy, S., Miller, P., Newell, J., McBride, C., Bond, J., Raevaara, T., Ollila, S., Nystrom, M., Grimm, A., Christodoulou, J., et al (2007). Interpreting missense variants: Comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Human Mutation, 28(7), 683-693. [More Information]
  • 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 (JIMD), 30(3), 405-405. [More Information]
  • Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Christodoulou, J., Leonard, H. (2007). Seizures in Rett syndrome: An overview from a one-year calendar study. European Journal of Paediatric Neurology, 11(5), 310-317. [More Information]
  • Schindeler, S., Ghosh-Jerath, S., Thompson, S., Rocca, A., Joy, P., Kemp, A., Rae, C., Green, K., Wilcken, B., Christodoulou, J. (2007). The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study. Molecular Genetics and Metabolism, 91, 48-54. [More Information]
  • 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(39479), 109-114. [More Information]
  • Kure, S., Kato, K., Dinopoulos, A., Gail, C., deGrauw, T., Christodoulou, J., Bzduch, V., Kalmanchey, R., Fekete, G., Trojovsky, A., et al (2006). Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Human Mutation, 27(4), 343-352. [More Information]
  • Christodoulou, J., Craig, H., Walker, D., Weaving, L., Pearson, C., McInnes, R. (2006). Deletion hotspot in the argininosuccinate lyase gene: Association with topoisomerase II and DNA polymerase α sites. Human Mutation, 27(11), 1065-1071. [More Information]
  • Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C., Dure, L., Friez, M., Lane, J., Kiraly-Borri, C., Jackson, J., Christodoulou, J., et al (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166.
  • Chiong, M., Marinaki, M., Duley, J., Bennetts, B., Ouvrier, R., Christodoulou, J. (2006). Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of Inherited Metabolic Disease (JIMD), 29(4), 594-DOI 10.1007/s10545-006-0281-4. [More Information]
  • Saxena, A., de Lagarde, D., Leonard, H., Williamson, S., Vasudevan, V., Christodoulou, J., Thompson, E., Macleod, P., Ravine, D. (2006). Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics, 43(6), 470-477. [More Information]
  • Pelka, G., Watson, C., Radziewic, T., Hayward, M., Lahooti, H., Christodoulou, J., Tam, P. (2006). Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain, 129(Pt 4), 887-898. [More Information]
  • Archer, H., Evans, J., Millar, D., Thompson, P., Kerr, A., Leonard, H., Christodoulou, J., Ravine, D., Lazarou, L., Grove, L., et al (2006). NTNG1 mutations are a rare cause of Rett syndrome. American Journal of Medical Genetics. Part A, 140A (7), 691-694. [More Information]
  • Tredano, M., Cooper, D., Stuhrmann, M., Christodoulou, J., Chuzhanova, N., Roudot-Thoraval, F., Boelle, P., Elion, J., Jeanpierre, M., Feingold, J., et al (2006). Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. American Journal of Medical Genetics. Part A, 140A (1), 62-69. [More Information]
  • Ager, S., Fyfe, S., Christodoulou, J., Jacoby, P., Schmitt, L., Leonard, H. (2006). Predictors of scoliosis in Rett syndrome. Journal of Child Neurology, 21(9), 809-813.
  • Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Bower, C., Anderson, A., Williamson, S., Christodoulou, J., Leonard, H. (2006). Predictors of seizure onset in Rett syndrome. The Journal of Pediatrics, 149(4), 542-547. [More Information]
  • Laurvick, C., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S., Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. The Journal of Pediatrics, 148(3), 347-352.
  • Williamson, S., Christodoulou, J. (2006). Rett syndrome: new clinical and molecular insights. European Journal of Human Genetics, 14(8), 896-903. [More Information]
  • Pelka, G., Watson, C., Christodoulou, J., Tam, P. (2005). Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development. Genomics, 85(4), 441-452. [More Information]
  • Evans, J., Archer, H., Colley, J., Ravn, K., Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P., et al (2005). Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics, 13(10), 1113-20. [More Information]
  • Leonard, H., Moore, H., Carey, M., Fyfe, S., Hall, S., Robertson, L., Wu, X., Bao, X., Pan, H., Christodoulou, J., Williamson, S., et al (2005). Genotype and early development in Rett syndrome: the value of international data. Brain and Development, 27(Suppl 1), S59-S68. [More Information]
  • Leonard, H., de Klerk, N., Robertson, I., Fyfe, S., Christodoulou, J., Weaving, L., Davis, M., Mulroy, S., Colvin, L. (2005). Health service use in Rett syndrome. Journal of Child Neurology, 20(1), 42-50. [More Information]
  • Biggin, A., Henke, R., Bennetts, B., Thorburn, D., Christodoulou, J. (2005). Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism, 84(1), 61-74. [More Information]
  • Mancuso, M., Ferraris, S., Pancrudo, J., Feigenbaum, A., Raiman, J., Christodoulou, J., Thorburn, D., DiMauro, S. (2005). New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. JAMA Neurology, 62(5), 745-747. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • Jian, L., Archer, H., Ravine, D., Kerr, A., de Klerk, N., Christodoulou, J., Bailey, M., Laurvick, C., Leonard, H. (2005). p.R270X MECP2 mutation and mortality in Rett syndrome. European Journal of Human Genetics, 13(11), 1235-1238. [More Information]
  • Barclay, A., Sholler, G., Christodoulou, J., Shun, A., Arbuckle, S., Dorney, S., Stormon, M. (2005). Pulmonary hypertension - A new manifestation of mitochondrial disease. Journal of Inherited Metabolic Disease (JIMD), 28(6), 1081-1089. [More Information]
  • Watson, C., Pelka, G., Radziewic, T., Shahbazian, M., Christodoulou, J., Williamson, S., Tam, P. (2005). Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2 308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation. Human Molecular Genetics, 14(13), 1851-1861. [More Information]
  • Weaving, L., Ellaway, C., Gécz, J., Christodoulou, J. (2005). Rett syndrome: clinical review and genetic update. Journal of Medical Genetics, 42(1), 1-7. [More Information]
  • Mitchell, J., Wilcken, B., Alexander, I., Ellaway, C., O'Grady, H., Wiley, V., Earl, J., Christodoulou, J. (2005). Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience. Molecular Genetics and Metabolism, 86(Suppl 1), S81-S85. [More Information]
  • Gibson, J., Williamson, S., Arbuckle, S., Christodoulou, J. (2005). X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain and Development, 27(4), 266-270. [More Information]
  • Shaw, C., Stankiewicz, P., Christodoulou, J., Smith, E., Jones, K., Lupski, J. (2004). A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome. American Journal of Medical Genetics. Part A, 124A (2), 173-178.
  • Rae, C., Joy, P., Harasty, J., Kemp, A., Kuan, S., Christodoulou, J., Cowell, C., Coltheart, M. (2004). Enlarged Temporal Lobes In Turner Syndrome: An X-Chromosome Effect? Cerebral Cortex, 14(2), 156-164.
  • Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H., Evans, J., Clarke, A., Pelka, G., Tam, P., Lahooti, H., Ellaway, C., Bennetts, B., Watson, C., et al (2004). Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation. American Journal of Human Genetics, 75, 1079-1093.
  • Christodoulou, J., Wilcken, B. (2004). Perimortem Laboratory Investigation Of Genetic Metabolic Disorders. Seminars In Neonatology, 9(4), 275-280.
  • Colvin, L., Leonard, H., de Klerk, N., Davis, M., Weaving, L., Williamson, S., Christodoulou, J. (2004). Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics, 41(1), 25-30.
  • Leonard, H., Weaving, L., Eastaugh, P., Smith, L., Engerstrom, I., Delatycki, M., Christodoulou, J. (2004). Trisomy 21 And Rett Syndrome: A Double Burden. Journal of Paediatrics and Child Health, 40(7), 406-409.
  • Minchenko, D., Williams, A., Christodoulou, J. (2003). Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision. Clinical Chemistry (Washington, DC), 11, 330-332.
  • Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., Christodoulou, J., Msall, M., Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38-43.
  • Weaving, L., Williamson, S., Bennetts, B., Davis, M., Ellaway, C., Leonard, H., Thong, M., Delatycki, M., Thompson, E., Laing, N., Christodoulou, J. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype. American Journal of Medical Genetics. Part A, 118A, 103-114.
  • Fyfe, S., de Klerk, N., Cream, A., Christodoulou, J., Leonard, H. (2003). InterRett and RettBASE: international Rett syndrome association databased for Rett syndrome. Journal of Child Neurology, 18(10), 709-713.
  • Christodoulou, J., Weaving, L. (2003). MECP2 and Beyond: Phenotype-Genotype Correlations in Rett Syndrome. Journal of Child Neurology, 18(10), 669-674.
  • Gill, H., Cheadle, J., Maynard, J., Fleming, N., Whatley, S., Cranston, T., Thompson, E., Leonard, H., Davis, M., Christodoulou, J., et al (2003). Mutation analysis in the MECP2 gene and genetic councelling for Rett syndrome. Journal of Medical Genetics, 40, 380-384.
  • Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N., Matsuishi, T., et al (2003). Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics, 40(e52), 1-7.
  • Christodoulou, J., Grimm, A., Maher, T., Bennetts, B. (2003). RettBASE: the IRSA MECP2 variation database-A new mutation database in evolution. Human Mutation, 21(5), 466-472.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders. Metabolism: clinical and experimental, 51(3), 366-371.
  • Milledge, J., Shaw, P., Mansour, A., Williamson, S., Bennetts, B., Roscioli, T., Curtin, J., Christodoulou, J. (2002). Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood, 100(3), 774-777.
  • Setterfield, K., Williams, A., Donald, J., Thorburn, D., Kirby, D., Trounce, I., Christodoulou, J. (2002). Flow cytometry in the study of mitochondrial respiratory chain disorders. Mitochondrion, 1(5), 437-445.
  • Ellaway, C., Wilcken, B., Christodoulou, J. (2002). Neonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn period. Journal of Paediatrics and Child Health, 38(5), 511-517.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Quantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. Molecular Genetics and Metabolism, 76(4), 327-334.
  • Ellaway, C., Badawi, N., Raffaele, L., Christodoulou, J., Leonard, H. (2001). A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology, 10(3), 185-188.
  • Kerr, A., Nomura, Y., Amstrong, D., Anvret, M., Belichenko,, P., Budden, S., Cass, H., Christodoulou, J., Clarke, A., Ellaway, C., et al (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development, 23(4), 208-211.
  • Ellaway, C., Peat, J., Williams, K., Leonard, H., Christodoulou, J. (2001). Medium-term open label trial of L-carnitine in Rett Syndrome. Brain and Development, 23(Supplement 1), S85-S89.
  • Ellaway, C., Christodoulou, J. (2001). Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation, 23, 98-106.
  • Ellaway, C., Peat, J., Christodoulou, J., Leonard, H. (2001). Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development, 23(1), S101-S103.
  • Grattan-smith,, P., Healey, S., Grigg, J., Christodoulou, J. (2001). Spinocerebella ataxia type 7: a distinctive form of autosomal dominant cerebella ataxia with retinopathy and marked genetic anticipation. Journal of Paediatrics and Child Health, 37(1), 81-84.
  • Carpenter, K., Wilcken, B., Christodoulou, J., Thorburn, D. (2000). Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis. Journal of Inherited Metabolic Disease (JIMD), 23(8), 845-846.

Research Reports

  • Trent, R., Otlowski, M., Ralston, M., Lonsdale, L., Young, M., Suthers, G., Griffiths, P., Delatycki, M., Christodoulou, J., Barlow-Stewart, K. (2010). Working to Build a Healthy Australia - Medical Genetic Testing: Information for health professionals, NHMRC Publication reference: E99, (pp. 1 - 98). Canberra, Australia: Australian Government National Health and Medical Research Council.

2014

  • Lim, S., Smith, K., Stroud, D., Compton, A., Tucker, E., Dasvarma, A., Gandolfo, L., Marum, J., McKenzie, M., Peters, H., Procopis, P., Wilcken, B., Christodoulou, J., et al (2014). A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome. American Journal of Human Genetics, 94(2), 209-222. [More Information]
  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Menezes, M., Riley, L., Christodoulou, J. (2014). Mitochondrial Respiratory Chain Disorders in Childhood: Insights into Diagnosis and Management in the New Era of Genomic Medicine. Biochimica et Biophysica Acta (Molecular and Cell Biology of Lipids), 1840 (4), 1368-1379. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Carpenter, K., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(1), 44-56. [More Information]

2013

  • 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. [More Information]
  • 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. JIMD Reports - Case and Research Reports, 8, 11-15.
  • 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. [More Information]
  • 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 (JIMD), 36(6), 955-959. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (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. [More Information]
  • Lim, S., Friemel, M., Marum, J., Tucker, E., Bruno, D., Riley, L., Christodoulou, J., Kirk, E., Boneh, A., DeGennaro, C., et al (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. [More Information]
  • Tucker, E., Wanschers, B., Szklarczyk, R., Mountford, H., Wijeyeratne, X., van den Brand, M., Leenders, A., Rodenburg, R., Reljic, B., Compton, A., Christodoulou, J., et al (2013). Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression. PLoS Genetics, 9(12), 1-15. [More Information]
  • 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(1), 1-11. [More Information]
  • 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. [More Information]
  • Fehr, S., Wilson, M., Downs, J., Williams, S., Murgia, A., Sartori, S., Vecchi, M., Ho, G., Polli, R., Psoni, S., Christodoulou, J., et al (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics, 21(3), 266-273. [More Information]
  • Tchan, M., Wilcken, B., Christodoulou, J. (2013). The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports - Case and Research Reports, 9, 81-84. [More Information]

2012

  • 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. [More Information]
  • Cotton, R., Auerbach, A., Brown, A., Carrera, P., Christodoulou, J., Claustres, M., Compton, J., Cox, D., De Baere, E., den Dunnen, J., et al (2012). A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Human Mutation, 28(10), 931-932. [More Information]
  • Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., Christodoulou, J., Wilcken, B. (2012). Homocysteine Measurement in Dried Blood Spot for Neonatal Detection of Homocystinurias. JIMD Reports - Case and Research Reports, 5, 1-6.
  • 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. JIMD Reports - Case and Research Reports, 4, 5-12.
  • Huppke, P., Brendel, C., Korenke, G., Marquardt, I., Donsante, A., Yi, L., Hicks, J., Steinbach, P., Wilson, C., Elpeleg, O., Christodoulou, J., et al (2012). Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase. Human Mutation, 33(8), 1207-1215. [More Information]
  • Calvo, S., Compton, A., Hershman, S., Lim, S., Lieber, D., Tucker, E., Laskowski, A., Garone, C., Liu, S., Jaffe, D., Christodoulou, J., et al (2012). Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine, 4(118), 1-15. [More Information]
  • Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., et al (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. [More Information]
  • Christodoulou, J., Ho, G., Gold, W., Williamson, S. (2012). Pathogenicity of C-terminal mutations in CDKL5. Journal of Pediatric Epilepsy, 1, 185-186. [More Information]
  • Moran, R., van Kuilenburg, A., Duley, J., Nabuurs, S., Retno-Fitri, A., Christodoulou, J., Roelofsen, J., Yntema, H., Friedman, N., van Bokhoven, H., et al (2012). Phosphoribosylpyrophosphate s 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. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Christodoulou, J. (2012). Trimethylaminuria: An under-recognised and socially debilitating metabolic disorder. Journal of Paediatrics and Child Health, 48(3), E153-E155. [More Information]

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), 468-470. [More Information]
  • 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-E1984. [More Information]
  • Tucker, E., Hershman, S., Kohrer, C., Belcher-Timme, C., Patel, J., Goldberger, O., Christodoulou, J., Silberstein, J., McKenzie, M., Ryan, M., et al (2011). Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism, 14(3), 428-434. [More Information]
  • Duley, J., Christodoulou, J., de Brouwer, A. (2011). The PRPP Synthetase Spectrum: What Does it Demonstrate About Nucleotide Syndromes? Nucleosides, Nucleotides and Nucleic Acids: An International Journal for Rapid Communication, 30(12), 1129-1139. [More Information]

2010

  • 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. [More Information]
  • de Brouwer, A., Dudley, J., Christodoulou, J. (2010). Arts Syndrome. Australian Rural Doctor.
  • White, R., Ho, G., Schmidt, S., Scheffer, I., Fischer, A., Yendle, S., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., Cloosterman, D., Bennetts, B., Christodoulou, J., et al (2010). Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Research and Human Genetics, 13(2), 168-178. [More Information]
  • Gibson, J., Slobedman, B., Harikrishnan, K., 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(53), 53-1-53-16. [More Information]
  • Hynes, K., Tarpey, P., Dibbens, L., Bayly, M., Berkovic, S., Smith, R., Al Raisi, Z., Turner, S., Brown, N., Desai, T., Christodoulou, J., et al (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), 211-216. [More Information]
  • Relf, B., Larkin, E., de 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), 349-357. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (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), 52-59. [More Information]
  • Chung, S., Vanbellinghen, J., Mullins, J., Robinson, A., Hantke, J., Hammond, C., Gilbert, D., Freilinger, M., Ryan, M., Kruer, M., Christodoulou, J., et al (2010). Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. The Journal of Neuroscience, 30(28), 9612-9620. [More Information]
  • 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. [More Information]
  • Neul, J., Kaufmann, W., Glaze, D., Christodoulou, J., Clarke, A., Bahi-Buisson, N., Leonard, H., Bailey, M., Schanen, N., Zappella, M., et al (2010). Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology, 68(6), 944-950. [More Information]
  • Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., et al (2010). Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Journal of Medical Genetics, 47, 242-248.
  • Trent, R., Otlowski, M., Ralston, M., Lonsdale, L., Young, M., Suthers, G., Griffiths, P., Delatycki, M., Christodoulou, J., Barlow-Stewart, K. (2010). Working to Build a Healthy Australia - Medical Genetic Testing: Information for health professionals, NHMRC Publication reference: E99, (pp. 1 - 98). Canberra, Australia: Australian Government National Health and Medical Research Council.

2009

  • Bijarnia, S., 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, 469-472. [More Information]
  • 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 (JIMD), Short Report #166 - online, 1-11. [More Information]
  • Wilcken, B., Haas, M., Joy, P., Wiley, V., Bowling, F., Carpenter, K., Christodoulou, J., Cowley, D., Ellaway, C., Fletcher, J., et al (2009). Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years. Pediatrics (English Edition), 124(2), e241-e248. [More Information]
  • Hamvas, A., Nogee, L., Wegner, D., DePass, K., Christodoulou, J., Bennetts, B., McQuade, L., Gray, P., Deterding, R., Carroll, T. (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. [More Information]
  • Ben Zeev, B., Bebbington, A., Ho, G., Leonard, H., De Klerk, N., Gak, E., Vecksler, M., Christodoulou, J. (2009). The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology, 72(14), 1242-1247. [More Information]

2008

  • de Brouwer, A., Duley, J., Christodoulou, J. (2008). Arts Syndrome. GeneReviews.
  • Ho, G., Walter, J., Christodoulou, J. (2008). Costeff optic atrophy syndrome: New clinical case and novel molecular findings. Journal of Inherited Metabolic Disease (JIMD), 31(SUPPL. 2), S419-S423. [More Information]
  • 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. European Journal of Neuroscience, 27(12), 3342-3350. [More Information]
  • 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 (JIMD), 31(4), 503-507. [More Information]
  • Singh, J., Saxena, A., Christodoulou, J., Raine, D. (2008). MECP2 genomic structure and function: insights from ENCODE. Nucleic Acids Research, 36(19), 6035-6047. [More Information]
  • Sugiana, C., Pagliarini, D., McKenzie, M., Kirby, D., Salemi, R., Abu-Amero, K., Dahl, H., Hutchison, W., Vascotto, K., Smith, S., Christodoulou, J., et al (2008). Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. American Journal of Human Genetics, 83(4), 468-478. [More Information]
  • 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. [More Information]

2007

  • de Brouwer, A., Williams, K., Duley, J., van Kuilenburg, A., Nabuurs, S., Egmont-Peterson, M., Lugtenberg, D., Zoetekouw, L., Banning, M., Roeffen, M., Ouvrier, R., Christodoulou, J., et al (2007). Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. American Journal of Human Genetics, 81(3), 507-518. [More Information]
  • Singh-Grewal, D., Chaitow, J., Aksentijevich, I., Christodoulou, J. (2007). Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Annals of the Rheumatic Diseases, 66(11), 1541-1541. [More Information]
  • Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M., Sampson, J., et al (2007). Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of Medical Genetics, 44(2), 148-152. [More Information]
  • Hardwick, S., Reuter, K., Williamson, S., Vasudevan, V., Donald, J., Slater, K., Bennetts, B., Bebbinton, A., Leonard, H., Williams, S., Christodoulou, J., et al (2007). Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. European Journal of Human Genetics, 15(12), 1218-1229. [More Information]
  • Chan, P., Duraisamy, S., Miller, P., Newell, J., McBride, C., Bond, J., Raevaara, T., Ollila, S., Nystrom, M., Grimm, A., Christodoulou, J., et al (2007). Interpreting missense variants: Comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Human Mutation, 28(7), 683-693. [More Information]
  • 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 (JIMD), 30(3), 405-405. [More Information]
  • Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Christodoulou, J., Leonard, H. (2007). Seizures in Rett syndrome: An overview from a one-year calendar study. European Journal of Paediatric Neurology, 11(5), 310-317. [More Information]
  • Schindeler, S., Ghosh-Jerath, S., Thompson, S., Rocca, A., Joy, P., Kemp, A., Rae, C., Green, K., Wilcken, B., Christodoulou, J. (2007). The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study. Molecular Genetics and Metabolism, 91, 48-54. [More Information]
  • 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(39479), 109-114. [More Information]

2006

  • Kure, S., Kato, K., Dinopoulos, A., Gail, C., deGrauw, T., Christodoulou, J., Bzduch, V., Kalmanchey, R., Fekete, G., Trojovsky, A., et al (2006). Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Human Mutation, 27(4), 343-352. [More Information]
  • Christodoulou, J., Craig, H., Walker, D., Weaving, L., Pearson, C., McInnes, R. (2006). Deletion hotspot in the argininosuccinate lyase gene: Association with topoisomerase II and DNA polymerase α sites. Human Mutation, 27(11), 1065-1071. [More Information]
  • Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C., Dure, L., Friez, M., Lane, J., Kiraly-Borri, C., Jackson, J., Christodoulou, J., et al (2006). Early progressive encephalopathy in boys and MECP2 mutations. Neurology, 67(1), 164-166.
  • Chiong, M., Marinaki, M., Duley, J., Bennetts, B., Ouvrier, R., Christodoulou, J. (2006). Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. Journal of Inherited Metabolic Disease (JIMD), 29(4), 594-DOI 10.1007/s10545-006-0281-4. [More Information]
  • Saxena, A., de Lagarde, D., Leonard, H., Williamson, S., Vasudevan, V., Christodoulou, J., Thompson, E., Macleod, P., Ravine, D. (2006). Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. Journal of Medical Genetics, 43(6), 470-477. [More Information]
  • Pelka, G., Watson, C., Radziewic, T., Hayward, M., Lahooti, H., Christodoulou, J., Tam, P. (2006). Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain, 129(Pt 4), 887-898. [More Information]
  • Archer, H., Evans, J., Millar, D., Thompson, P., Kerr, A., Leonard, H., Christodoulou, J., Ravine, D., Lazarou, L., Grove, L., et al (2006). NTNG1 mutations are a rare cause of Rett syndrome. American Journal of Medical Genetics. Part A, 140A (7), 691-694. [More Information]
  • Tredano, M., Cooper, D., Stuhrmann, M., Christodoulou, J., Chuzhanova, N., Roudot-Thoraval, F., Boelle, P., Elion, J., Jeanpierre, M., Feingold, J., et al (2006). Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. American Journal of Medical Genetics. Part A, 140A (1), 62-69. [More Information]
  • Ager, S., Fyfe, S., Christodoulou, J., Jacoby, P., Schmitt, L., Leonard, H. (2006). Predictors of scoliosis in Rett syndrome. Journal of Child Neurology, 21(9), 809-813.
  • Jian, L., Nagarajan, L., de Klerk, N., Ravine, D., Bower, C., Anderson, A., Williamson, S., Christodoulou, J., Leonard, H. (2006). Predictors of seizure onset in Rett syndrome. The Journal of Pediatrics, 149(4), 542-547. [More Information]
  • Laurvick, C., de Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S., Leonard, H. (2006). Rett syndrome in Australia: A review of the epidemiology. The Journal of Pediatrics, 148(3), 347-352.
  • Williamson, S., Christodoulou, J. (2006). Rett syndrome: new clinical and molecular insights. European Journal of Human Genetics, 14(8), 896-903. [More Information]

2005

  • Pelka, G., Watson, C., Christodoulou, J., Tam, P. (2005). Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development. Genomics, 85(4), 441-452. [More Information]
  • Evans, J., Archer, H., Colley, J., Ravn, K., Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P., et al (2005). Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics, 13(10), 1113-20. [More Information]
  • Leonard, H., Moore, H., Carey, M., Fyfe, S., Hall, S., Robertson, L., Wu, X., Bao, X., Pan, H., Christodoulou, J., Williamson, S., et al (2005). Genotype and early development in Rett syndrome: the value of international data. Brain and Development, 27(Suppl 1), S59-S68. [More Information]
  • Leonard, H., de Klerk, N., Robertson, I., Fyfe, S., Christodoulou, J., Weaving, L., Davis, M., Mulroy, S., Colvin, L. (2005). Health service use in Rett syndrome. Journal of Child Neurology, 20(1), 42-50. [More Information]
  • Biggin, A., Henke, R., Bennetts, B., Thorburn, D., Christodoulou, J. (2005). Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism, 84(1), 61-74. [More Information]
  • Mancuso, M., Ferraris, S., Pancrudo, J., Feigenbaum, A., Raiman, J., Christodoulou, J., Thorburn, D., DiMauro, S. (2005). New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. JAMA Neurology, 62(5), 745-747. [More Information]
  • Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. (2005). OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease (JIMD), 28(4), 525-532. [More Information]
  • Jian, L., Archer, H., Ravine, D., Kerr, A., de Klerk, N., Christodoulou, J., Bailey, M., Laurvick, C., Leonard, H. (2005). p.R270X MECP2 mutation and mortality in Rett syndrome. European Journal of Human Genetics, 13(11), 1235-1238. [More Information]
  • Barclay, A., Sholler, G., Christodoulou, J., Shun, A., Arbuckle, S., Dorney, S., Stormon, M. (2005). Pulmonary hypertension - A new manifestation of mitochondrial disease. Journal of Inherited Metabolic Disease (JIMD), 28(6), 1081-1089. [More Information]
  • Watson, C., Pelka, G., Radziewic, T., Shahbazian, M., Christodoulou, J., Williamson, S., Tam, P. (2005). Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2 308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation. Human Molecular Genetics, 14(13), 1851-1861. [More Information]
  • Christodoulou, J., Williamson, S., Ellaway, C. (2005). Rett Syndrome. In Jurgen Fuchs & Maurizio Podda (Eds.), Encyclopedia of Medical Genomics and Proteomics, (pp. 1-7). Europe: Marcel Dekker.
  • Weaving, L., Ellaway, C., Gécz, J., Christodoulou, J. (2005). Rett syndrome: clinical review and genetic update. Journal of Medical Genetics, 42(1), 1-7. [More Information]
  • Mitchell, J., Wilcken, B., Alexander, I., Ellaway, C., O'Grady, H., Wiley, V., Earl, J., Christodoulou, J. (2005). Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience. Molecular Genetics and Metabolism, 86(Suppl 1), S81-S85. [More Information]
  • Gibson, J., Williamson, S., Arbuckle, S., Christodoulou, J. (2005). X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain and Development, 27(4), 266-270. [More Information]

2004

  • Shaw, C., Stankiewicz, P., Christodoulou, J., Smith, E., Jones, K., Lupski, J. (2004). A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome. American Journal of Medical Genetics. Part A, 124A (2), 173-178.
  • Christodoulou, J., Wilcken, B. (2004). Biochemical Genetic Emergencies. In Henry Kilham & David Isaacs (Eds.), The Childrens Hospital at Westmead Handbook: Clinical practice guidelines for paediatrics, (pp. 104-111). Sydney: McGraw-Hill Education.
  • Rae, C., Joy, P., Harasty, J., Kemp, A., Kuan, S., Christodoulou, J., Cowell, C., Coltheart, M. (2004). Enlarged Temporal Lobes In Turner Syndrome: An X-Chromosome Effect? Cerebral Cortex, 14(2), 156-164.
  • Weaving, L., Christodoulou, J., Williamson, S., Friend, K., McKenzie, O., Archer, H., Evans, J., Clarke, A., Pelka, G., Tam, P., Lahooti, H., Ellaway, C., Bennetts, B., Watson, C., et al (2004). Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation. American Journal of Human Genetics, 75, 1079-1093.
  • Christodoulou, J., Wilcken, B. (2004). Perimortem Laboratory Investigation Of Genetic Metabolic Disorders. Seminars In Neonatology, 9(4), 275-280.
  • Colvin, L., Leonard, H., de Klerk, N., Davis, M., Weaving, L., Williamson, S., Christodoulou, J. (2004). Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics, 41(1), 25-30.
  • Leonard, H., Weaving, L., Eastaugh, P., Smith, L., Engerstrom, I., Delatycki, M., Christodoulou, J. (2004). Trisomy 21 And Rett Syndrome: A Double Burden. Journal of Paediatrics and Child Health, 40(7), 406-409.

2003

  • Minchenko, D., Williams, A., Christodoulou, J. (2003). Adaptation of a mitochondrial complex III assay for automation: examination of reproducibility and precision. Clinical Chemistry (Washington, DC), 11, 330-332.
  • Colvin, L., Fyfe, S., Leonard, S., Schiavello, T., Ellaway, C., de Klerk, N., Christodoulou, J., Msall, M., Leonard, H. (2003). Describing the phenotype in Rett syndrome using a population database. Archives of Disease in Childhood, 88(1), 38-43.
  • Weaving, L., Williamson, S., Bennetts, B., Davis, M., Ellaway, C., Leonard, H., Thong, M., Delatycki, M., Thompson, E., Laing, N., Christodoulou, J. (2003). Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype. American Journal of Medical Genetics. Part A, 118A, 103-114.
  • Christodoulou, J. (2003). Genetic metabolic disorders. In Kenneth P. Nunn, Cybele Dey (Eds.), The Clinicians Guide to Psychotropic Prescribing Children and Adolescents, (pp. 332-346). Australia: Child and Adolescent Mental Health Statewide Network.
  • Fyfe, S., de Klerk, N., Cream, A., Christodoulou, J., Leonard, H. (2003). InterRett and RettBASE: international Rett syndrome association databased for Rett syndrome. Journal of Child Neurology, 18(10), 709-713.
  • Christodoulou, J., Weaving, L. (2003). MECP2 and Beyond: Phenotype-Genotype Correlations in Rett Syndrome. Journal of Child Neurology, 18(10), 669-674.
  • Gill, H., Cheadle, J., Maynard, J., Fleming, N., Whatley, S., Cranston, T., Thompson, E., Leonard, H., Davis, M., Christodoulou, J., et al (2003). Mutation analysis in the MECP2 gene and genetic councelling for Rett syndrome. Journal of Medical Genetics, 40, 380-384.
  • Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N., Matsuishi, T., et al (2003). Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? Journal of Medical Genetics, 40(e52), 1-7.
  • Christodoulou, J., Grimm, A., Maher, T., Bennetts, B. (2003). RettBASE: the IRSA MECP2 variation database-A new mutation database in evolution. Human Mutation, 21(5), 466-472.

2002

  • Christodoulou, J. (2002). A clinical approach to inborn errors of metabolism. In Rudolph AM, Kamei RK, Overby KJ (Eds.), Rudolphs Fundamentals of Pediatrics, (pp. 221-252). United Kingdom: McGraw-Hill Education.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders. Metabolism: clinical and experimental, 51(3), 366-371.
  • Milledge, J., Shaw, P., Mansour, A., Williamson, S., Bennetts, B., Roscioli, T., Curtin, J., Christodoulou, J. (2002). Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. Blood, 100(3), 774-777.
  • Setterfield, K., Williams, A., Donald, J., Thorburn, D., Kirby, D., Trounce, I., Christodoulou, J. (2002). Flow cytometry in the study of mitochondrial respiratory chain disorders. Mitochondrion, 1(5), 437-445.
  • Ellaway, C., Wilcken, B., Christodoulou, J. (2002). Neonatology for the Generalist: Clinical approach to inborn errors of metabolism presenting in the newborn period. Journal of Paediatrics and Child Health, 38(5), 511-517.
  • Sim, K., Carpenter, K., Hammond, J., Christodoulou, J., Wilcken, B. (2002). Quantitative fibroblasts acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations. Molecular Genetics and Metabolism, 76(4), 327-334.

2001

  • Ellaway, C., Badawi, N., Raffaele, L., Christodoulou, J., Leonard, H. (2001). A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clinical Dysmorphology, 10(3), 185-188.
  • Kerr, A., Nomura, Y., Amstrong, D., Anvret, M., Belichenko,, P., Budden, S., Cass, H., Christodoulou, J., Clarke, A., Ellaway, C., et al (2001). Guidelines for reporting clinical features in cases with MECP2 mutations. Brain and Development, 23(4), 208-211.
  • Christodoulou, J., Barlow, R. (2001). It's all in our genes. In Kim Oates, Kathryn Currow & Wendy Hu (Eds.), Child Health: A Practical Manual for General Practice, (pp. 37-46). Australia: MacLennan & Petty.
  • Ellaway, C., Peat, J., Williams, K., Leonard, H., Christodoulou, J. (2001). Medium-term open label trial of L-carnitine in Rett Syndrome. Brain and Development, 23(Supplement 1), S85-S89.
  • Ellaway, C., Christodoulou, J. (2001). Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation, 23, 98-106.
  • Ellaway, C., Peat, J., Christodoulou, J., Leonard, H. (2001). Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain and Development, 23(1), S101-S103.
  • Grattan-smith,, P., Healey, S., Grigg, J., Christodoulou, J. (2001). Spinocerebella ataxia type 7: a distinctive form of autosomal dominant cerebella ataxia with retinopathy and marked genetic anticipation. Journal of Paediatrics and Child Health, 37(1), 81-84.

2000

  • Carpenter, K., Wilcken, B., Christodoulou, J., Thorburn, D. (2000). Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis. Journal of Inherited Metabolic Disease (JIMD), 23(8), 845-846.

To update your profile click here. For support on your academic profile contact .