Publications for John Christodoulou

2021 1774. [More Alsharhan, H., He, M., Edmondson, A., Daniel, E., Chen, J., Information] Donald, T., Bakhtiari, S., Amor, D., Jones, E., Vassallo, G., Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C., Pinner, Christodoulou, J., et al (2021). ALG13 X-linked intellectual J., Sandaradura, S., Buckley, M., Krzesinski, E., De Silva, M., disability: New variants, glycosylation analysis, and expanded Ades, L., Jones, K., Ma, A., Smith, J., Christodoulou, J., et al phenotypes. Journal of Inherited Metabolic Disease, 44(4), (2020). Feasibility of Ultra-Rapid Exome Sequencing in 1001-1012. [More Conditions in the Australian Public Health Care System. JAMA - Information] Journal of the American Medical Association, 323(24), 2503- Kaur, S., Van Bergen, N., Ben-Zeev, B., Leonardi, E., Tan, T., 2511. [More Gold, W., Christodoulou, J., et al (2021). Expanding the genetic Information] landscape of Rett syndrome to include lysine acetyltransferase Tucker, E., Rius, R., Jaillard, S., Bell, K., Lamont, P., Travessa, 6A (KAT6A). Journal of Genetics and Genomics, 47(10), 650- A., Dupont, J., Sampaio, L., Dulon, J., Vuillaumier-Barrot, S., 654. [More the diverse molecular causes of Perrault syndrome: a Information] peroxisomal disorder (PEX6), metabolic disorders (CLPP, Frazier, A., Compton, A., Kishita, Y., Hock, D., Welch, A., GGPS1), and mtDNA maintenance/translation disorders Amarasekera, S., Rius, R., Formosa, L., Imai-Okazaki, S., (LARS2, TFAM). Human Genetics, 139(10), 1325-1343. [More Christodoulou, J., et al (2021). Fatal perinatal mitochondrial Information] cardiac failure caused by recurrent de novo duplications in the Davids, M., Menezes, M., Guo, Y., McLean, S., Hakonarson, ATAD3 locus. Med, 2(1), 49-73. [More R., Christodoulou, J., et al (2020). Homozygous splice-variants Information] in human ARV1 cause GPI-anchor synthesis deficiency. Li, D., March, M., Fortugno, P., Cox, L., Matsuoka, L., Molecular Genetics and Metabolism, 130(1), 49-57. [More Soler, M., Christodoulou, J., et al (2021). Pathogenic variants in Information] CDH11 impair cell adhesion and cause Teebi hypertelorism Wu, Y., Al-Janabi, H., Mallett, A., Quinlan, C., Scheffer, I., syndrome. Human Genetics, 140(7), 1061-1076. [More Z., et al (2020). Parental health spillover effects of paediatric Information] rare genetic conditions. Quality of Life Research, 29(9), 2445- 2020 2454. [More Information] Wenger, T., Bly, R., Wu, N., Albert, C., Park, J., Shieh, J., Ng, B., Eklund, E., Shiryaev, S., Dong, Y., Abbott, M., Chenbhanich, J., Heike, C., Adam, M., Chang, I., Wilson, M., Asteggiano, C., Bamshad, M., Barr, E., Bernstein, J., Christodoulou, J., et al (2020). Activating variants in PDGFRB Chelakkadan, S., Christodoulou, J., et al (2020). Predominant result in a spectrum of disorders responsive to imatinib and novel de novo variants in 29 individuals with ALG13 monotherapy. American Journal of Medical Genetics, Part A, deficiency: Clinical description, biomarker status, biochemical 182(7), 1576-1591. [More Metabolic Disease, 43(6), 1333-1348. href="http://dx.doi.org/10.1002/jimd.12290">[More Best, S., Stark, Z., Phillips, P., Wu, Y., Long, J., Taylor, N., Information] Braithwaite, J., Christodoulou, J., Goranitis, I. (2020). Clinical Van Bergen, N., Ellery, M., Christodoulou, J. (2020). Reply: genomic testing: what matters to key stakeholders? European Biallelic in-frame deletion in TRAPPC4 in a family with Journal of Human Genetics, 28(7), 866-873. Brain, 143(10). [More href="http://dx.doi.org/10.1093/brain/awaa257">[More Information] Information] Van Bergen, N., Guo, Y., Al-Deri, N., Lipatova, Z., Stanga, D., Van Bergen, N., Linster, C., Christodoulou, J. (2020). Reply: Zhao, S., Murtazina, R., Gyurkovska, V., Pehlivan, D., Mitani, NAD(P)HX dehydratase protein-truncating mutations are T., Christodoulou, J., et al (2020). Deficiencies in vesicular associated with neurodevelopmental disorder exacerbated by transport mediated by TRAPPC4 are associated with severe acute illness. Brain, 143(7), 1-3. [More href="http://dx.doi.org/10.1093/brain/awz374">[More Information] Information] Van Bergen, N., Christodoulou, J. (2020). Reply: Recurrent bi- Kaur, S., Van Bergen, N., Verhey, K., Nowell, C., Budaitis, B., allelic splicing variant c.454+3A4G in TRAPPC4 is associated Yue, Y., Ellaway, C., Brunetti-Pierri, N., Cappuccio, G., Bruno, with progressive encephalopathy and muscle involvement. I., Gold, W., Christodoulou, J., et al (2020). Expansion of the Brain, 143(3). [More family member 1A (KIF1A). Human Mutation, 41(10), 1761- Information] Information] Riley, L., Cowley, M., Gayevskiy, V., Minoche, A., Puttick, C., Krishnaraj, R., Haase, F., Coorey, B., Luca, E., Wong, I., Thorburn, D., Rius, R., Compton, A., Menezes, M., Boyling, A., Ellaway, C., Christodoulou, J., Gold, W. (2019). Bhattacharya, K., Ellaway, C., Alexander, I., Adams, L., Genome-wide transcriptomic and proteomic studies of Rett Balasubramaniam, S., Christodoulou, J., et al (2020). The syndrome mouse models identify common signaling pathways diagnostic utility of genome sequencing in a pediatric cohort and cellular functions as potential therapeutic targets. Human with suspected mitochondrial disease. Genetics in Medicine, Mutation, 40(12), 2184-2196. [More 020-0793-6">[More Information] Information] Riley, L., Rudinger-Thirion, J., Frugier, M., Wilson, M., Luig, Van Bergen, N., Guo, Y., Rankin, J., Paczia, N., Becker- M., Alahakoon, T., Nixon, C., Kirk, E., Roscioli, T., Lunke, S., Kettern, J., Kremer, L., Pyle, A., Conrotte, J., Ellaway, C., Christodoulou, J., et al (2020). The expanding LARS2 Procopis, P., Christodoulou, J., et al (2019). NAD(P)HX phenotypic spectrum: HLASA, Perrault syndrome with dehydratase (NAXD) deficiency: a novel neurodegenerative leukodystrophy, and mitochondrial myopathy. Human disorder exacerbated by febrile illnesses. Brain, 142(1), 50-58. Mutation, 41(8), 1425-1434. [More href="http://dx.doi.org/10.1002/humu.24050">[More Information] Information] Morales-Briceno, H., Chang, F., Wong, C., Mallawaarachchi, 2019 A., Wolfe, N., da Silva, R., Hakonarson, H., Sandaradura, S., Guo, Y., Christodoulou, J., Fung, V., et al (2019). Paroxysmal Lake, N., Formosa, L., Stroud, D., Ryan, M., Calvo, S., dyskinesias with drowsiness and thalamic lesions in GABA Mootha, V., Morar, B., Procopis, P., Christodoulou, J., transaminase deficiency. Neurology, 92(2), 94-97. [M nonsense variants in two Leigh syndrome disease genes: ore Information] Distinguishing a dual diagnosis from a hypomorphic protein- Kaur, S., Van Bergen, N., Gold, W., Eggers, S., Lunke, S., truncating variant. Human Mutation, 40(7), 893-898. [More sequencing reveals a de novo missense variant in EEF1A2 in a Information] Rett syndrome-like patient. Clinical Case Reports, 7(12), 2476- Stark, Z., Boughtwood, T., Phillips, P., Christodoulou, J., 2482. [More Hansen, D., Braithwaite, J., Newson, A., Gaff, C., Sinclair, A., Information] North, K. (2019). Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. American Journal of 2018 Human Genetics, 105(1), 7-14. [More Gold, W. (2018). A simple and efficient toolset for analysing Information] mitochondrial trafficking in neuronal cells. Acta histochemica, van der Knaap, M., Bugiani, M., Mendes, M., Riley, L., Smith, 120(8), 797-805. [More van Gaalen, J., Riley, L., Christodoulou, J., et al (2019). Information] Biallelic variants in LARS2 and KARS cause deafness and Maheshwari, N., Christodoulou, J., Percy, A. (2018). (ovario)leukodystrophy. Neurology, 92(11), e1225-e1237. [M syndrome. Anaesthesiologie und Intensivmedizin, 59, S117- ore Information] S124. [More Larson, A., Balasubramaniam, S., Christodoulou, J., Burrage, Information] L., Marom, R., Graham, B., Diaz, G., Glamuzina, E., Hauser, Kothur, K., Holman, K., Farnsworth, E., Ho, G., Lorentzos, M., N., Heese, B., et al (2019). Biochemical signatures mimicking Troedson, C., Gupta, S., Webster, R., Procopis, P., Menezes, multiple carboxylase deficiency in children with mutations in M., Ardern-Holmes, S., Dale, R., Gill, D., Bennetts, B., et al MT-ATP6. Mitochondrion, 44, 58-64. [More sequencing in children with epileptic encephalopathy. Seizure: Information] European Journal of Epilepsy, 59, 132-140. [More Christodoulou, J. (2019). Biparental inheritance of Information] mitochondrial DNA in humans is not a common phenomenon. Balasubramaniam, S., Riley, L., Vasudevan, A., Cowley, M., Genetics in Medicine, 21(12), 2823-2826. [More R., Kiraly-Borri, C., Christodoulou, J., et al (2018). EPG5- Information] Related Vici Syndrome: A Primary Defect of Autophagic Rius, R., Van Bergen, N., Compton, A., Riley, L., Kava, M., Regulation with an Emerging Phenotype Overlapping with Balasubramaniam, S., Amor, D., Fanjul-Fernandez, M., Mitochondrial Disorders. JIMD Reports, 42, 19-29. [More (2019). Clinical Spectrum and Functional Consequences Information] Associated with Bi-Allelic Pathogenic PNPT1 Variants. Ryder, B., Moore, F., Mitchell, A., Thompson, S., Journal of Clinical Medicine, 8(11), 1-11. [More Deficiency: A Safe and Potentially Disease Modifying Effect of Information] High Fat/Low Carbohydrate Diet. JIMD Reports, 40, 77-83. [More Disorders of riboflavin metabolism. Journal of Inherited Information] Metabolic Disease, 42(4), 608-619. [More Jacoby, P., Christodoulou, J., Elliott, E., Leonard, H. (2018). 269. [More Information] Physical Health, and Parental Well-Being of Females with Rett Zurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Syndrome: A Longitudinal Study of an Australian Population. Christodoulou, J., Leonard, H., Elliott, E. (2017). Australian The Journal of Pediatrics, 200, 188-195.e1. [More perceived consequences of diagnostic delays. Orphanet Journal Information] of Rare Diseases, 12(1), 1-9. [More Brunel-Guitton, C., Christodoulou, J., Cohen, B., Dimmock, D., Information] Enns, G., et al (2018). Patient care standards for primary Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, mitochondrial disease: a consensus statement from the C., Thorburn, D., Simons, C., Christodoulou, J. (2017). Mitochondrial Medicine Society. Genetics in Medicine, 19(12), Compound heterozygous mutations in glycyl-tRNA synthetase 1-18. [More (GARS) cause mitochondrial respiratory chain dysfunction. Information] PloS One, 12(6), 1-12. [More (2018). Rett Syndrome: A Genetic Update and Clinical Review Information] Focusing on Comorbidities. ACS Chemical Neuroscience, 9(2), Balasubramaniam, S., Lewis, B., Mock, D., Said, H., Tarailo- 167-176. [More Rodenburg, R., Christodoulou, J. (2017). Leigh-Like Syndrome Information] Due to Homoplasmic m8993T>G Variant with Coman, D., Vissers, L., Riley, L., Kwint, M., Hauck, R., Hypocitrullinemia and Unusual Biochemical Features Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Suggestive of Multiple Carboxylase Deficiency (MCD). JIMD Christodoulou, J., et al (2018). Squalene Synthase Deficiency: Reports, 33, 99-107. [More Defect in Cholesterol Biosynthesis. American Journal of Information] Human Genetics, 103(1), 125-130. [More Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. Information] (2017). Mutations in RARS cause a hypomyelination disorder Riley, L., Heeney, M., Rudinger-Thirion, J., Frugier, M., akin to Pelizaeus-Merzbacher disease. European Journal of Campagna, D., Zhou, R., Hale, G., Hilliard, L., Kaplan, J., Human Genetics, 25(10), 1134-1141. [More spectrum of germline YARS2 variants: from isolated Information] sideroblastic anemia to mitochondrial myopathy, lactic acidosis Maas, R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, and sideroblastic anemia 2. Haematologica, 103(12), 2008- B., AlSayed, M., Al-Owain, M., Al-Zaidan, H., 2015. [More Riley, L., et al (2017). Progressive deafness-dystonia due to Information] SERAC1 mutations - a study of 67 cases. Annals of Neurology, Nafisinia, M., Menezes, M., Gold, W., Riley, L., Hatch, J., 82(6), 1004-1015. [More carefully: A functional variant in the human NADPH oxidase 4 Information] (NOX4) is not disease causing. Molecular Genetics and Zurynski, Y., Gonzalez, A., Deverell, M., Phu, A., Leonard, H., Metabolism, 123(3), 382-387. [More survey of paediatricians' experiences and needs. BMJ Information] Paediatrics Open, 1(1), 1-8. 2017 Parikh, S., Goldstein, A., Karaa, A., Koenig, M., Anselm, I., Brunel-Guitton, C., Christodoulou, J., Cohen, B., Dimmock, D., Gold, W., Sobreira, N., Wiame, E., Marbaix, A., Van Sue, C., et al (2017). Response to Newman et al. Genetics in Schaftingen, E., Franzka, P., Riley, L., Worgan, L., Hubner, C., Medicine, 19(12), 1-2. [More GMPPA in siblings with apparent intellectual disability, Information] epilepsy, dysmorphism, and autonomic dysfunction. American Journal of Medical Genetics, Part A, 173(8), 2246-2250. [More Rett syndrome database update. Human Mutation, 38(8), 922- Information] 931. [More Information] Torraco, A., Bianchi, M., Verrigni, D., Gelmetti, V., Riley, L., Niceta, M., Martinelli, D., Montanari, A., Guo, Y., Rizza, T., Balasubramaniam, S., Riley, L., Bratkovic, D., Ketteridge, D., Christodoulou, J., et al (2017). A novel mutation in NDUFB11 Manton, N., Cowley, M., Gayevskiy, V., Roscioli, T., unveils a new clinical phenotype associated with lactic acidosis Mohamed, M., Gardeitchik, T., Christodoulou, J., et al (2017). and sideroblastic anemia. Clinical Genetics, 91(3), 441-447. [More to ECHS1 deficiency. Journal of Inherited Metabolic Disease, Information] 40(5), 745-747. [More Information] Riley, L., Cowley, M., Gayevskiy, V., Roscioli, T., Thorburn, D., Prelog, K., Bahlo, M., Sue, C., Balasubramaniam, S., Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Christodoulou, J. (2017). A SLC39A8 variant causes Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., manganese deficiency, and glycosylation and mitochondrial et al (2017). Whole Exome Sequencing Identifies the Genetic disorders. Journal of Inherited Metabolic Disease, 40(2), 261- Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. genotype and functional abilities in the CDKL5 disorder. JIMD Reports, 32, 117-124. [More href="http://dx.doi.org/10.1212/WNL.0000000000003352">[M Information] ore Information] Alodaib, A., Sobreira, N., Gold, W., Riley, L., Van Bergen, N., Parikh, S., Karaa, A., Goldstein, A., Ng, Y., Gorman, G., Wilson, M., Bennetts, B., Thorburn, D., Boehm, C., Feigenbaum, A., Christodoulou, J., Haas, R., Tarnopolsky, M., Christodoulou, J. (2017). Whole-exome sequencing identifies Cohen, B., et al (2016). Solid organ transplantation in primary novel variants in PNPT1 causing oxidative phosphorylation mitochondrial disease: Proceed with caution. Molecular defects and severe multisystem disease. European Journal of Genetics and Metabolism, 118(3), 178-184. [More href="http://dx.doi.org/10.1038/ejhg.2016.128">[More Information] Information] Ma, A., Grigg, J., Ho, G., Prokudin, I., Farnsworth, E., Holman, 2016 K., Cheng, A., Billson, F., Martin, F., Fraser, C., Christodoulou, J., Flaherty, M., Bennetts, B., Jamieson, R., et al (2016). Kondo, M., Gray, L., Pelka, G., Leang, S., Christodoulou, J., Sporadic and Familial Congenital Cataracts: Mutational Tam, P., Hannan, A. (2016). Affective dysfunction in a mouse Spectrum and new Diagnoses using Next-Generation model of Rett syndrome: Therapeutic effects of environmental Sequencing. Human Mutation, 37(4), 371-384. [More 76(2), 209-224. href="http://dx.doi.org/10.1002/dneu.22308">[More Downs, J., Torode, I., Wong, K., Ellaway, C., Elliott, E., Information] Christodoulou, J., Jacoby, P., Thomson, M., Izatt, M., Askin, Smith, T., Ho, G., Christodoulou, J., Price, E., Onadim, Z., G., et al (2016). The Natural History of Scoliosis in Females Gauthier-Villars, M., Dehainault, C., Houdayer, C., Parfait, B., With Rett Syndrome. Spine, 41(10), 856-863. [Mo Mutation Rate Between and Within Human Genes Associated re Information] with Mendelian Disease. Human Mutation, 37(5), 488-494. [More Ades, L., Keating, B., Xu, X., Teo, J., Christodoulou, J., et al Information] (2016). Utility of next-generation sequencing technologies for Downs, J., Torode, I., Ellaway, C., Jacoby, P., Bunting, C., the efficient genetic resolution of haematological disorders. Wong, K., Christodoulou, J., Leonard, H. (2016). Family Clinical Genetics, 89(2), 163-172. [More Developmental Neurorehabilitation, 19(1), 31-37. href="http://dx.doi.org/10.3109/17518423.2014.898107">[More Information] 2015 Fehr, S., Downs, J., Ho, G., de Klerk, N., Forbes, D., Guo, Y., Menezes, M., Menezes, M., Liang, J., Li, D., Riley, L., Christodoulou, J., Williams, S., Leonard, H. (2016). Functional Clarke, N., Andrews, P., Tian, L., Webster, R., Christodoulou, abilities in children and adults with the CDKL5 disorder. J., et al (2015). Delayed diagnosis of congenital myasthenia due American Journal of Medical Genetics, Part A, 170(11), 2860- to associated mitochondrial enzyme defect. Neuromuscular 2869. [More Disorders, 25, 257-261. href="http://dx.doi.org/10.1016/j.nmd.2014.11.017">[More Information] Heimer, G., Keratar, J., Riley, L., Balasubramaniam, S., Eyal, E., Pietikainen, L., Hiltunen, J., Marek-Yagel, D., Williamson, S., Ellaway, C., Peters, G., Pelka, G., Tam, P., Christodoulou, J., et al (2016). MECR Mutations Cause Christodoulou, J. (2015). Deletion of protein tyrosine Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett Fatty Acid Synthesis Disorder. American Journal of Human syndrome-like phenotype. European Journal of Human Genetics, 99(6), 1229-1244. [More href="http://dx.doi.org/10.1038/ejhg.2014.249">[More Information] Information] Bjoraker, K., Swanson, M., Coughlin, C., Christodoulou, J., Schwahn, B., Spronsen, F., Belaidi, A., Bowha, S., Tan, E., Fergeson, M., Dyack, S., Ahmad, A., Friederich, M., Christodoulou, J., Derks, T., Hennermann, J., Jameson, E., Spector, E., et al (2016). Neurodevelopmental Outcome and König, K., McGregor, T., et al (2015). Efficacy and safety of Treatment Efficacy of Benzoate and Dextromethorphan in cyclic pyranopterin monophosphate substitution in severe Siblings with Attenuated Nonketotic Hyperglycinemia. The molybdenum cofactor deficiency type A: A prospective cohort Journal of Pediatrics, 170, 234-239. [More href="http://dx.doi.org/10.1016/S0140-6736(15)00124- Information] 5">[More Information] Menezes, M., Rahman, S., Bhattacharya, K., Clark, D., Riley, L., Rudinger-Thirion, J., Schmitz-Abe, K., Thorburn, D., Christodoulou, J., Ellaway, C., Farrar, M., Pitt, M., Sampaio, Davis, R., Teo, J., Arbuckle, S., Cooper, S., Campagna, D., H., Ware, T., Ouvrier, R., et al (2016). Neurophysiological Frugier, M., Sue, C., Christodoulou, J., et al (2015). LARS2 profile of peripheral neuropathy associated with childhood Variants Associated with Hydrops, Lactic Acidosis, mitochondrial disease. Mitochondrion, 30, 162-167. [More 28, 49-57. href="http://dx.doi.org/10.1007/8904_2015_515">[More Information] Fehr, S., Wong, K., Chin, R., Williams, S., de Klerk, N., Forbes, D., Krishnaraj, R., Christodoulou, J., Downs, J., Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). Leonard, H. (2016). Seizure variables and their relationship to MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Barbaro, P., Keating, B., Chen, Y., Tian, L., Al-Odaib, A., Journal of Molecular Medicine, 93(1), 63-72. [More bone marrow failure associated with germline mutation of Information] ACD, the gene encoding telomere protein TPP1. Blood, 124(18), 2767-2774. [More Information] Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., in mitochondrial ribosomal protein S7 (MRPS7) causes Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial congenital sensorineural deafness, progressive hepatic and renal dysfunction in the skeletal muscle of a mouse model of Rett failure and lactic acidemia. Human Molecular Genetics, 24(8), syndrome (RTT): Implications for the disease phenotype. 2297-2307. [More href="http://dx.doi.org/10.1016/j.mito.2014.02.012">[More Information] Information] Ilkovski, B., Pagnamenta, A., O'Grady, G., Kinoshita, T., Menezes, M., Riley, L., Christodoulou, J. (2014). Mitochondrial Howard, M., Lek, M., Thomas, B., Turner, A., Christodoulou, Respiratory Chain Disorders in Childhood: Insights into J., Sillence, D., Waddell, L., Brilot-Turville, F., North, K., Diagnosis and Management in the New Era of Genomic Clarke, N., et al (2015). Mutations in PIGY: expanding the Medicine. Biochimica et Biophysica Acta. Molecular and Cell phenotype of inherited glycosylphosphatidylinositol Biology of Lipids, 1840 (4), 1368-1379. [More [More Information] Information] Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Al Hafid, N., Christodoulou, J. (2015). Phenylketonuria: a Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). review of current and future treatments. Translational Rapid identification of a novel complex I MT-ND3 Pediatrics, 4(4), 304-317. A mutation in a Leigh syndrome patient. PloS One, href="http://dx.doi.org/10.3978/j.issn.2224- 9(8), 1-6. [More Information] href="http://dx.doi.org/10.1371/journal.pone.0104879">[More Information] Gold, W., Christodoulou, J. (2015). The utility of next- generation sequencing in gene discovery for mutation-negative Ho, G., Alexander, I., Bhattacharya, K., Dennison, B., Ellaway, patients with Rett syndrome. Frontiers in Cellular C., Thompson, S., Wilcken, B., Christodoulou, J. (2014). The Neuroscience, 9, 1-6. [More Wales, Australia: Mutation Profile and Correlation with Information] Tetrahydrobiopterin (BH4) Responsiveness. JIMD Reports, 14, 55-65. [More Forbes, D., Christodoulou, J., Downs, J. (2015). There is Information] variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of Neurodevelopmental Disorders, Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, 7(1), 1-13. [More Information] J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood 2014 neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Dasvarma, A., Gandolfo, L., Marum, J., McKenzie, M., Peters, Information] H., Procopis, P., Wilcken, B., Christodoulou, J., et al (2014). A Founder Mutation in PET100 Causes Isolated Complex IV Trakadis, Y., Alfares, A., Bodamer, O., Buyukavici, M., Deficiency in Lebanese Individuals with Leigh Syndrome. Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez- American Journal of Human Genetics, 94(2), 209-222. [More Update on transcobalamin deficiency: clinical presentation, Information] treatment and outcome. Journal of Inherited Metabolic Disease, 37(3), 461-473. [More Information] Christodoulou, J., Jacoby, P., Leonard, H. (2014). Experience of Gastrostomy Using a Quality Care Framework: The Example of 2013 Rett Syndrome. Medicine, 93(28), 1-9. [Mor Ellaway, C., Ho, G., Bettella, E., Knapman, A., Collins, F., e Information] Hackett, A., McKenzie, F., Darmanian, A., Peters, G., Fagan, K., Christodoulou, J. (2013). 14q12 microdeletions excluding Balasubramaniam, S., Duley, J., Christodoulou, J. (2014). FOXG1 give rise to a congenital variant Rett syndrome-like Inborn errors of purine metabolism: clinical update and phenotype. European Journal of Human Genetics, 21(5), 522- therapies. Journal of Inherited Metabolic Disease, 37(5), 669- 527. [More 686. [More Information] Garg, P., Carpenter, K., Chong, S., Christodoulou, J. (2013). A Balasubramaniam, S., Duley, J., Christodoulou, J. (2014). Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Inborn errors of pyrimidine metabolism: clinical update and Offensive Odour of Trimethylamine. JIMD Reports, 8, 11-15. therapy. Journal of Inherited Metabolic Disease, 37(5), 687- 698. [More Information] Yan, D. (2013). Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. International Guo, Y., Kartawinata, M., Li, J., Pickett, H., Teo, J., Kilo, T., Journal of Audiology, 52(1), 23-28. [More kinase-like 5 (CDKL5) has an alternative C-terminus and is the Information] predominant transcript in brain. Human Genetics, 131(2), 187- 200. [More Information] through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: A potential therapy for Alodaib, A., Carpenter, K., Wiley, V., Wotton, T., phenylketonuria. Journal of Inherited Metabolic Disease, 36(6), Christodoulou, J., Wilcken, B. (2012). Homocysteine 955-959. [More Information] Homocystinurias. JIMD Reports, 5, 1-6. 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