| Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Y Tatuch, J Christodoulou, A Feigenbaum, JT Clarke, J Wherret, C Smith, ... American journal of human genetics 50 (4), 852, 1992 | 675 | 1992 |
| Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised … HL Levy, A Milanowski, A Chakrapani, M Cleary, P Lee, FK Trefz, ... The Lancet 370 (9586), 504-510, 2007 | 354 | 2007 |
| Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1397, 2017 | 283 | 2017 |
| IDH2 mutations in patients with D-2-hydroxyglutaric aciduria M Kranendijk, EA Struys, E Van Schaftingen, KM Gibson, WA Kanhai, ... Science 330 (6002), 336-336, 2010 | 233 | 2010 |
| Phospholipid abnormalities in children with Barth syndrome M Schlame, RI Kelley, A Feigenbaum, JA Towbin, PM Heerdt, T Schieble, ... Journal of the American College of Cardiology 42 (11), 1994-1999, 2003 | 227 | 2003 |
| A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate MS Van Der Knaap, P Van Der Voorn, F Barkhof, R Van Coster, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 219 | 2003 |
| A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome F Rutsch, M MacDougall, C Lu, I Buers, O Mamaeva, Y Nitschke, GI Rice, ... The American Journal of Human Genetics 96 (2), 275-282, 2015 | 217 | 2015 |
| Mitochondrial DNA depletion and dGK gene mutations L Salviati, S Sacconi, M Mancuso, D Otaegui, P Camano, A Marina, ... Annals of neurology 52 (3), 311-317, 2002 | 188 | 2002 |
| A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency GL Arnold, J Van Hove, D Freedenberg, A Strauss, N Longo, B Burton, ... Molecular genetics and metabolism 96 (3), 85-90, 2009 | 166 | 2009 |
| Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme RM Garrett, JL Johnson, TN Graf, A Feigenbaum, KV Rajagopalan Proceedings of the National Academy of Sciences 95 (11), 6394-6398, 1998 | 163 | 1998 |
| Mutation characterization and genotype-phenotype correlation in Barth syndrome J Johnston, RI Kelley, A Feigenbaum, GF Cox, GS Iyer, VL Funanage, ... The American Journal of Human Genetics 61 (5), 1053-1058, 1997 | 162 | 1997 |
| Screening for carriers of Tay-Sachs disease among Ashkenazi Jews: a comparison of DNA-based and enzyme-based tests BL Triggs-Raine, ASJ Feigenbaum, M Natowicz, MA Skomorowski, ... New England Journal of Medicine 323 (1), 6-12, 1990 | 140 | 1990 |
| Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme NF Brown, RS Mullur, I Subramanian, V Esser, MJ Bennett, JM Saudubray, ... Journal of lipid research 42 (7), 1134-1142, 2001 | 136 | 2001 |
| The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada A Roscher, J Patel, S Hewson, L Nagy, A Feigenbaum, J Kronick, ... Molecular genetics and metabolism 113 (3), 171-176, 2014 | 122 | 2014 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 121 | 2013 |
| An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm DP Dimmock, MM Clark, M Gaughran, JA Cakici, SA Caylor, C Clarke, ... The American Journal of Human Genetics 107 (5), 942-952, 2020 | 119 | 2020 |
| Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate U Lichter-Konecki, GA Diaz, JL Merritt II, A Feigenbaum, C Jomphe, ... Molecular genetics and metabolism 103 (4), 323-329, 2011 | 103 | 2011 |
| Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews A Shaag, A Saada, I Berger, H Mandel, A Joseph, A Feigenbaum, ... American journal of medical genetics 82 (2), 177-182, 1999 | 102 | 1999 |
| Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy SH Kevelam, M Bugiani, GS Salomons, A Feigenbaum, S Blaser, ... Brain 136 (5), 1534-1543, 2013 | 99 | 2013 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 98 | 2018 |
