2024

• Veleva, D., Ay, M., Ovchinnikov, D., Prowse, A., Menezes, M., Nafisinia, M. (2024). Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria. Stem Cell Research, 77, 103405. [More Information]
• Veleva, D., Ay, M., Ovchinnikov, D., Prowse, A., Menezes, M., Nafisinia, M. (2024). Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria. Stem Cell Research, 77, 103407. [More Information]

2023

• Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E., Kariminejad, A., Efthymiou, S., Zifarelli, G., Sultan, T., Toosi, M., Sedighzadeh, S., Menezes, M., et al (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273-3288. [More Information]

2022

• Riley, L., Nafisinia, M., Menezes, M., Nambiar, R., Williams, A., Barnes, E., Selvanathan, A., Lichkus, K., Bratkovic, D., Yaplito-Lee, J., Bhattacharya, K., Ellaway, C., Balasubramaniam, S., Christodoulou, J., et al (2022). FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children. Molecular Genetics and Metabolism, 135(1), 63-71. [More Information]
• Varidel, A., Cooper, M., Loughran, J., Menezes, M., Marucci, D. (2022). Intravenous Tranexamic Acid is Associated with a Clinically Significant Reduction in Blood Loss in Craniosynostosis Surgery. Journal of Craniofacial Surgery, 33(2), 636-641. [More Information]

2020

• Davids, M., Menezes, M., Guo, Y., McLean, S., Hakonarson, H., Collins, F., Worgan, L., Billington, C., Maric, I., Littlejohn, R., Christodoulou, J., et al (2020). Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular Genetics and Metabolism, 130(1), 49-57. [More Information]
• Ahmadpour, N., Weatherall, A., Menezes, M., Yoo, S., Hong, H., Wong, G. (2020). Synthesizing Multiple Stakeholder Perspectives on Using Virtual Reality to Improve the Periprocedural Experience in Children and Adolescents: Survey Study. Journal of Medical Internet Research, 22(7), 1-12. [More Information]
• Riley, L., Cowley, M., Gayevskiy, V., Minoche, A., Puttick, C., Thorburn, D., Rius, R., Compton, A., Menezes, M., Bhattacharya, K., Ellaway, C., Alexander, I., Adams, L., Balasubramaniam, S., Christodoulou, J., et al (2020). The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in Medicine, 22(7), 1254-1261. [More Information]

2019

• Weatherall, A., Menezes, M., Koh, S., Lazarus, M. (2019). Learner and educator experiences and priorities in paediatric airway education: A qualitative study. Anaesthesia and Intensive Care, 47(3), 274-280. [More Information]

2018

• Nafisinia, M., Menezes, M., Gold, W., Riley, L., Hatch, J., Cardinal, J., Coman, D., Christodoulou, J. (2018). Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. Molecular Genetics and Metabolism, 123(3), 382-387. [More Information]

2015

• Guo, Y., Menezes, M., Menezes, M., Liang, J., Li, D., Riley, L., Clarke, N., Andrews, P., Tian, L., Webster, R., Christodoulou, J., et al (2015). Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscular Disorders, 25, 257-261. [More Information]
• Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]

2014

• 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]
• Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PloS One, 9(8), 1-6. [More Information]

2013

• 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]
• 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]