| Down syndrome:: Clinical profile from India MP Kava, MS Tullu, MN Muranjan, KM Girisha Archives of medical research 35 (1), 31-35, 2004 | 170 | 2004 |
| 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 | 63 | 2020 |
| Cytomegalovirus‐associated ileal stricture in a preterm neonate RM Srinivasjois, MP Kava, A Thomas, SC Rao Journal of paediatrics and child health 44 (1‐2), 80-82, 2008 | 30 | 2008 |
| Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants R Rius, NJ Van Bergen, AG Compton, LG Riley, MP Kava, ... Journal of clinical medicine 8 (11), 2020, 2019 | 25 | 2019 |
| Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy N Vorster, K Evans, N Murphy, M Kava, A Cairns, D Clarke, MM Ryan, ... Neuromuscular Disorders 29 (3), 221-230, 2019 | 23 | 2019 |
| Cardiac crises: cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises CY Miyake, EJ Lay, CM Beach, SR Ceresnak, CM Delauz, TS Howard, ... Heart Rhythm 19 (10), 1673-1681, 2022 | 21 | 2022 |
| Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report MP Kava, A Robertson, L Greed, S Balasubramaniam European journal of clinical nutrition 73 (6), 961-965, 2019 | 21 | 2019 |
| Natural history of TANGO2 deficiency disorder: baseline assessment of 73 patients CY Miyake, EJ Lay, C Soler-Alfonso, KE Glinton, KM Houck, M Tosur, ... Genetics in Medicine 25 (4), 100352, 2023 | 17 | 2023 |
| Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations M Kava, D Chitayat, S Blaser, PN Ray, J Vajsar Pediatric Neurology 49 (5), 374-378, 2013 | 16 | 2013 |
| 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 |
| Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use K Bayley, S Parkinson, P Jacoby, D Cross, S Morris, N Vorster, ... Journal of Paediatrics and Child Health 56 (9), 1419-1425, 2020 | 14 | 2020 |
| Epilepsy and electroencephalographic abnormalities in SATB2-associated syndrome H Lewis, D Samanta, JL Örsell, KA Bosanko, A Rowell, M Jones, RC Dale, ... Pediatric neurology 112, 94-100, 2020 | 13 | 2020 |
| Effect of induction of meconium evacuation using per rectal laxatives on neonatal hyperbilirubinemia in term infants: a systematic review of randomized controlled trials R Srinivasjois, A Sharma, P Shah, M Kava Indian journal of medical sciences 65 (7), 278, 2011 | 12 | 2011 |
| Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency MP Kava, L Bryant, P Rowe, B Lewis, L Greed, S Balasubramaniam JIMD reports 54 (1), 9-15, 2020 | 10 | 2020 |
| Application of genome sequencing from blood to diagnose mitochondrial diseases R Rius, AG Compton, NL Baker, AME Welch, D Coman, MP Kava, ... Genes 12 (4), 607, 2021 | 9 | 2021 |
| Colloid cyst of the third ventricle: a cause of sudden death in a child MP Kava, MS Tullu, CT Deshmukh, A Shenoy Indian journal of cancer 40 (1), 31-33, 2003 | 9 | 2003 |
| Clinical and Electrophysiological Characteristics of Vincristine Induced Peripheral Neuropathy in Children M Kava, P Walsh, R SrinivasJois, C Cole, B Lewis, L Nagarajan Journal of the International Child Neurology Association, 2017 | 6 | 2017 |
| Two novel GLDC mutations in a neonate with nonketotic hyperglycinemia SL Nickerson, S Balasubramaniam, PA Dryland, JM Love, MP Kava, ... Journal of Pediatric Genetics, 174-180, 2016 | 6 | 2016 |
| Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations CM Sue, S Balasubramaniam, D Bratkovic, C Bonifant, J Christodoulou, ... Internal Medicine Journal 52 (1), 110-120, 2022 | 4 | 2022 |
| A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction LTM Wintjes, M Kava, FA van den Brandt, MAM van den Brand, O Lapina, ... Human mutation 42 (2), 135-141, 2021 | 4 | 2021 |
