| Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management S Senniappan, B Shanti, C James, K Hussain Journal of inherited metabolic disease 35, 589-601, 2012 | 184 | 2012 |
| Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function MK Bjursell, HJ Blom, JA Cayuela, ML Engvall, N Lesko, ... The American Journal of Human Genetics 89 (4), 507-515, 2011 | 131 | 2011 |
| Disorders of riboflavin metabolism S Balasubramaniam, J Christodoulou, S Rahman Journal of inherited metabolic disease 42 (4), 608-619, 2019 | 127 | 2019 |
| A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders LG Riley, MJ Cowley, V Gayevskiy, T Roscioli, DR Thorburn, K Prelog, ... Journal of inherited metabolic disease 40, 261-269, 2017 | 113 | 2017 |
| MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ... The American Journal of Human Genetics 99 (6), 1229-1244, 2016 | 91 | 2016 |
| Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co‐factor pyridoxal‐5′‐phosphate … S Balasubramaniam, F Bowling, K Carpenter, J Earl, J Chaitow, J Pitt, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 81 | 2010 |
| 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 |
| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 62 | 2020 |
| Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases RR Maas, K Iwanicka‐Pronicka, S Kalkan Ucar, B Alhaddad, M AlSayed, ... Annals of neurology 82 (6), 1004-1015, 2017 | 62 | 2017 |
| Inborn errors of purine metabolism: clinical update and therapies S Balasubramaniam, JA Duley, J Christodoulou Journal of inherited metabolic disease 37, 669-686, 2014 | 60 | 2014 |
| Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, ... Med 2 (1), 49-73. e10, 2021 | 55 | 2021 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 54 | 2022 |
| Inborn errors of pyrimidine metabolism: clinical update and therapy S Balasubramaniam, JA Duley, J Christodoulou Journal of inherited metabolic disease 37, 687-698, 2014 | 52 | 2014 |
| Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations JJ Pitt, H Peters, A Boneh, J Yaplito-Lee, S Wieser, K Hinderhofer, ... Journal of inherited metabolic disease 38, 459-466, 2015 | 44 | 2015 |
| Riboflavin metabolism: role in mitochondrial function S Balasubramaniam, J Yaplito-Lee J. Transl. Genet. Genom 4, 285-306, 2020 | 42 | 2020 |
| Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review DA Mordaunt, A Jolley, S Balasubramaniam, DR Thorburn, HS Mountford, ... American Journal of Medical Genetics Part A 167 (6), 1330-1336, 2015 | 42 | 2015 |
| Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease M Nafisinia, N Sobreira, L Riley, W Gold, B Uhlenberg, C Weiß, C Boehm, ... European Journal of Human Genetics 25 (10), 1134-1141, 2017 | 39 | 2017 |
| Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in … B Shanti, M Silink, K Bhattacharya, NJ Howard, K Carpenter, M Fietz, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 39 | 2009 |
| Treatment of Lesch–Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl BC Chen, S Balasubramaniam, IN McGown, JP O’Neill, GS Chng, ... Brain and Development 36 (7), 593-600, 2014 | 38 | 2014 |
| Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency S Balasubramaniam, C Rudduck, B Bennetts, G Peters, B Wilcken, ... Molecular genetics and metabolism 99 (1), 34-41, 2010 | 37 | 2010 |
