| Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ... Science translational medicine 4 (118), 118ra10-118ra10, 2012 | 542 | 2012 |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ... Nature genetics 44 (3), 338-342, 2012 | 285 | 2012 |
| Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy C Garone, S Tadesse, M Hirano Brain 134 (11), 3326-3332, 2011 | 241 | 2011 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 172 | 2016 |
| Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation S Kariya, T Obis, C Garone, T Akay, F Sera, S Iwata, S Homma, ... The Journal of clinical investigation 124 (2), 785-800, 2014 | 154 | 2014 |
| Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): an open-label, parallel group trial G Coppola, E Franzoni, A Verrotti, C Garone, J Sarajlija, FF Operto, ... Brain and Development 29 (5), 281-284, 2007 | 130 | 2007 |
| Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia I Manoli, JR Sysol, L Li, P Houillier, C Garone, C Wang, PM Zerfas, ... Proceedings of the National Academy of Sciences 110 (33), 13552-13557, 2013 | 126 | 2013 |
| The mitochondrial DNA genetic bottleneck: inheritance and beyond H Zhang, SP Burr, PF Chinnery Essays in biochemistry 62 (3), 225-234, 2018 | 120 | 2018 |
| Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis V Ramesh, B Bernardi, A Stafa, C Garone, E Franzoni, M Abinun, ... Developmental Medicine & Child Neurology 52 (8), 725-732, 2010 | 114 | 2010 |
| CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders M Hirano, C Garone, CM Quinzii Biochimica et Biophysica Acta (BBA)-General Subjects 1820 (5), 625-631, 2012 | 112 | 2012 |
| Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions D Ronchi, C Garone, A Bordoni, P Gutierrez Rios, SE Calvo, M Ripolone, ... Brain 135 (11), 3404-3415, 2012 | 107 | 2012 |
| Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency C Garone, B Garcia‐Diaz, V Emmanuele, LC Lopez, S Tadesse, ... EMBO molecular medicine 6 (8), 1016-1027, 2014 | 106 | 2014 |
| Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency C Lopez‐Gomez, RJ Levy, MJ Sanchez‐Quintero, M Juanola‐Falgarona, ... Annals of neurology 81 (5), 641-652, 2017 | 102 | 2017 |
| NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs L Van Haute, SY Lee, BJ McCann, CA Powell, D Bansal, L Vasiliauskaitė, ... Nucleic acids research 47 (16), 8720-8733, 2019 | 98 | 2019 |
| 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 |
| Clinical syndromes associated with Coenzyme Q10 deficiency M Alcázar-Fabra, E Trevisson, G Brea-Calvo Essays in biochemistry 62 (3), 377-398, 2018 | 98 | 2018 |
| Deoxynucleoside therapy for thymidine kinase 2–deficient myopathy C Domínguez‐González, M Madruga‐Garrido, F Mavillard, C Garone, ... Annals of neurology 86 (2), 293-303, 2019 | 91 | 2019 |
| Retrospective natural history of thymidine kinase 2 deficiency C Garone, RW Taylor, A Nascimento, J Poulton, C Fratter, ... Journal of medical genetics 55 (8), 515-521, 2018 | 91 | 2018 |
| MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions C Garone, JC Rubio, SE Calvo, A Naini, K Tanji, S DiMauro, VK Mootha, ... Archives of neurology 69 (12), 1648-1651, 2012 | 85 | 2012 |
| TMEM14C is required for erythroid mitochondrial heme metabolism YY Yien, RF Robledo, IJ Schultz, N Takahashi-Makise, B Gwynn, ... The Journal of clinical investigation 124 (10), 4294-4304, 2014 | 77 | 2014 |
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIVerified email at hms.harvard.edu
