Publications for John Christodoulou 2021 1774. <a href="http://dx.doi.org/10.1002/humu.24079">[More Alsharhan, H., He, M., Edmondson, A., Daniel, E., Chen, J., Information]</a> 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. <a Critically Ill Infants and Children with Suspected Monogenic href="http://dx.doi.org/10.1002/jimd.12378">[More Conditions in the Australian Public Health Care System. JAMA - Information]</a> Journal of the American Medical Association, 323(24), 2503- Kaur, S., Van Bergen, N., Ben-Zeev, B., Leonardi, E., Tan, T., 2511. <a Coman, D., Kamien, B., White, S., St John, M., Phelan, D., href="http://dx.doi.org/10.1001/jama.2020.7671">[More Gold, W., Christodoulou, J., et al (2021). Expanding the genetic Information]</a> 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. <a Christodoulou, J., et al (2020). Genomic sequencing highlights href="http://dx.doi.org/10.1016/j.jgg.2020.09.003">[More the diverse molecular causes of Perrault syndrome: a Information]</a> 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. <a Francis, D., Ellaway, C., Bhattacharya, K., Rodriguez, M., href="http://dx.doi.org/10.1007/s00439-020-02176-w">[More Christodoulou, J., et al (2021). Fatal perinatal mitochondrial Information]</a> 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. <a H., Collins, F., Worgan, L., Billington, C., Maric, I., Littlejohn, href="http://dx.doi.org/10.1016/j.medj.2020.06.004">[More R., Christodoulou, J., et al (2020). Homozygous splice-variants Information]</a> 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. <a Monetta, R., Seiler, C., Pyle, L., Bedoukian, E., S�nchez- href="http://dx.doi.org/10.1016/j.ymgme.2020.02.005">[More Soler, M., Christodoulou, J., et al (2021). Pathogenic variants in Information]</a> 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. <a Howell, K., Christodoulou, J., Leventer, R., Lockhart, P., Stark, href="http://dx.doi.org/10.1007/s00439-021-02274-3">[More Z., et al (2020). Parental health spillover effects of paediatric Information]</a> rare genetic conditions. Quality of Life Research, 29(9), 2445- 2020 2454. <a href="http://dx.doi.org/10.1007/s11136-020-02497- 3">[More Information]</a> 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. <a analysis, and treatment suggestions. Journal of Inherited href="http://dx.doi.org/10.1002/ajmg.a.61615">[More Metabolic Disease, 43(6), 1333-1348. <a Information]</a> href="http://dx.doi.org/10.1002/jimd.12290">[More Best, S., Stark, Z., Phillips, P., Wu, Y., Long, J., Taylor, N., Information]</a> 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. <a developmental delay and cerebellar atrophy. Brain, 143(10). <a href="http://dx.doi.org/10.1038/s41431-020-0576-1">[More href="http://dx.doi.org/10.1093/brain/awaa257">[More Information]</a> Information]</a> 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. <a syndromic intellectual disability. Brain, 143(1), 112-130. <a href="http://dx.doi.org/10.1093/brain/awaa131">[More href="http://dx.doi.org/10.1093/brain/awz374">[More Information]</a> Information]</a> 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). <a phenotypic spectrum of de novo missense variants in kinesin href="http://dx.doi.org/10.1093/brain/awaa047">[More family member 1A (KIF1A). Human Mutation, 41(10), 1761- Information]</a> Information]</a> 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. <a 22(7), 1254-1261. <a href="http://dx.doi.org/10.1038/s41436- href="http://dx.doi.org/10.1002/humu.23887">[More 020-0793-6">[More Information]</a> Information]</a> 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. <a <a href="http://dx.doi.org/10.1093/brain/awy310">[More href="http://dx.doi.org/10.1002/humu.24050">[More Information]</a> Information]</a> 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. <a Compton, A., et al (2019). A patient with homozygous href="http://dx.doi.org/10.1212/WNL.0000000000006744">[M nonsense variants in two Leigh syndrome disease genes: ore Information]</a> 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. <a White, S., Ellaway, C., Christodoulou, J. (2019). Whole exome href="http://dx.doi.org/10.1002/humu.23753">[More sequencing reveals a de novo missense variant in EEF1A2 in a Information]</a> Rett syndrome-like patient. Clinical Case Reports, 7(12), 2476- Stark, Z., Boughtwood, T., Phillips, P., Christodoulou, J., 2482. <a href="http://dx.doi.org/10.1002/ccr3.2511">[More Hansen, D., Braithwaite, J., Newson, A., Gaff, C., Sinclair, A., Information]</a> North, K. (2019). Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. American Journal of 2018 Human Genetics, 105(1), 7-14. <a Shahen, V., Cantrill, L., Bahram Sangani, N., Christodoulou, J., href="http://dx.doi.org/10.1016/j.ajhg.2019.06.003">[More Gold, W. (2018). A simple and efficient toolset for analysing Information]</a> mitochondrial trafficking in neuronal cells. Acta histochemica, van der Knaap, M., Bugiani, M., Mendes, M., Riley, L., Smith, 120(8), 797-805. <a D., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., href="http://dx.doi.org/10.1016/j.acthis.2018.09.001">[More van Gaalen, J., Riley, L., Christodoulou, J., et al (2019). Information]</a> Biallelic variants in LARS2 and KARS cause deafness and Maheshwari, N., Christodoulou, J., Percy, A. (2018). (ovario)leukodystrophy. Neurology, 92(11), e1225-e1237. <a Anaesthesia recommendations for patients suffering from Rett href="http://dx.doi.org/10.1212/WNL.0000000000007098">[M syndrome. Anaesthesiologie und Intensivmedizin, 59, S117- ore Information]</a> S124. <a href="http://dx.doi.org/10.19224/ai2018.S117">[More Larson, A., Balasubramaniam, S., Christodoulou, J., Burrage, Information]</a> 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).