| Development of human protein reference database as an initial platform for approaching systems biology in humans S Peri, JD Navarro, R Amanchy, TZ Kristiansen, CK Jonnalagadda, ... Genome research 13 (10), 2363-2371, 2003 | 1335 | 2003 |
| Human protein reference database as a discovery resource for proteomics S Peri, JD Navarro, TZ Kristiansen, R Amanchy, V Surendranath, ... Nucleic acids research 32 (suppl_1), D497-D501, 2004 | 701 | 2004 |
| Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia P Gaignard, M Menezes, M Schiff, A Bayot, M Rak, HO de Baulny, CH Su, ... The American Journal of Human Genetics 93 (2), 384-389, 2013 | 79 | 2013 |
| Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia MJ Menezes, Y Guo, J Zhang, LG Riley, ST Cooper, DR Thorburn, J Li, ... Human Molecular Genetics 24 (8), 2297-2307, 2015 | 78 | 2015 |
| Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia LG Riley, MJ Menezes, J Rudinger-Thirion, R Duff, P de Lonlay, A Rotig, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 64 | 2013 |
| The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease LG Riley, MJ Cowley, V Gayevskiy, AE Minoche, C Puttick, DR Thorburn, ... Genetics in Medicine 22 (7), 1254-1261, 2020 | 59 | 2020 |
| Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine MJ Menezes, LG Riley, J Christodoulou Biochimica et Biophysica Acta (BBA)-General Subjects 1840 (4), 1368-1379, 2014 | 44 | 2014 |
| Mutations in the exocyst component EXOC2 cause severe defects in human brain development NJ Van Bergen, SM Ahmed, F Collins, M Cowley, A Vetro, RC Dale, ... Journal of Experimental Medicine 217 (10), e20192040, 2020 | 26 | 2020 |
| A manually curated functional annotation of the human X chromosome HC Harsha, S Suresh, R Amanchy, N Deshpande, K Shanker, AJ Yatish, ... Nature genetics 37 (4), 331-332, 2005 | 22 | 2005 |
| Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect Y Guo, MJ Menezes, MP Menezes, J Liang, D Li, LG Riley, NF Clarke, ... Neuromuscular Disorders 25 (3), 257-261, 2015 | 20 | 2015 |
| Synthesizing multiple stakeholder perspectives on using virtual reality to improve the periprocedural experience in children and adolescents: survey study N Ahmadpour, AD Weatherall, M Menezes, S Yoo, H Hong, G Wong Journal of Medical Internet Research 22 (7), e19752, 2020 | 16 | 2020 |
| Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency M Davids, M Menezes, Y Guo, SD McLean, H Hakonarson, F Collins, ... Molecular genetics and metabolism 130 (1), 49-57, 2020 | 15 | 2020 |
| FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children LG Riley, M Nafisinia, MJ Menezes, R Nambiar, A Williams, EH Barnes, ... Molecular Genetics and Metabolism 135 (1), 63-71, 2022 | 14 | 2022 |
| Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child R Rius, LG Riley, Y Guo, M Menezes, AG Compton, NJ Van Bergen, ... Molecular Genetics and Metabolism 126 (1), 77-82, 2019 | 14 | 2019 |
| Rapid identification of a novel complex I MT-ND3 m. 10134C> A mutation in a Leigh syndrome patient DK Miller, MJ Menezes, C Simons, LG Riley, ST Cooper, SM Grimmond, ... Plos one 9 (8), e104879, 2014 | 7 | 2014 |
| Intravenous tranexamic acid is associated with a clinically significant reduction in blood loss in craniosynostosis surgery A Varidel, M Cooper, J Loughran, M Menezes, D Marucci Journal of Craniofacial Surgery 33 (2), 636-641, 2022 | 6 | 2022 |
| Clinician Perspective on VR Games for Managing Periprocedural Anxiety in Children S Yoo, A Weatherall, G Wong, S Scott, M Menezes, N Wood, A Pillai, ... Proceedings of the 31st Australian Conference on Human-Computer-Interaction …, 2019 | 5 | 2019 |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders A Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ... Brain 146 (8), 3273-3288, 2023 | 4 | 2023 |
| Learner and educator experiences and priorities in paediatric airway education: A qualitative study AD Weatherall, M Menezes, SM Koh, MD Lazarus Anaesthesia and Intensive Care 47 (3), 274-280, 2019 | 4 | 2019 |
| Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria D Veleva, M Ay, DA Ovchinnikov, ABJ Prowse, MJ Menezes, M Nafisinia Stem Cell Research 77, 103405, 2024 | | 2024 |
