2013

• 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]
• 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]

2012

• 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]
• 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.
• 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

• 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]

2010

• 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.

2009

• 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]

2008

• 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.

2007

• Hardwick, S., Reuter, K., Williamson, S., Vasudevan, V., Donald, J., Slater, K., Bennetts, B., Bebbington, A., Leonard, H., Williams, S., Smith, R., Cloosterman, D., Christodoulou, J. (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 : EJHG. 15(12), 1218-29. [Abstract]
• 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. [Abstract]
• Cotton, R., Auerbach, A., Brown, A., Carrera, P., Christodoulou, J., Claustres, M., Compton, J., Cox, D., De Baere, E., den Dunnen, J., Greenblatt, M., Fujiwara, M., Hilbert, P., Jani, A., Lehvaslaiho, H., Nebert, D., Verma, I., Vihinen, M. (2007), 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. [Abstract]
• de Brouwer, A., Williams, K., Duley, J., van Kuilenburg, A., Nabuurs, S., Egmont-Petersen, M., Lugtenberg, D., Zoetekouw, L., Banning, M., Roeffen, M., Hamel, B., Weaving, L., Ouvrier, R., Donald, J., Wevers, R., Christodoulou, J., van Bokhoven, H. (2007), Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. American journal of human genetics. 81(3), 507-518. [Abstract]
• Chan, P., Duraisamy, S., Miller, P., Newell, J., McBride, C., Bond, J., Raevaara, T., Ollila, S., Nyström, M., Grimm, A., Christodoulou, J., Oetting, W., Greenblatt, M. (2007), Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Human Mutation. 28(7), 683-693. [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]
• 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(1), 48-54. [Abstract]
• Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M., Sampson, J., de Klerk, N., Clarke, A. (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. [Abstract]
• Nagarajan, L., de Klerk, N., Ravine, D., Christodoulou, J., Leonard, H., Jian, L. (2007), Seizures in Rett syndrome: An overview from a one-year calendar study. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 11(5), 310-317. [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]