| 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 | 572 | 2012 |
| Leigh syndrome: one disorder, more than 75 monogenic causes NJ Lake, AG Compton, S Rahman, DR Thorburn Annals of neurology 79 (2), 190-203, 2016 | 565 | 2016 |
| High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ... Nature genetics 42 (10), 851-858, 2010 | 430 | 2010 |
| Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ... The American Journal of Human Genetics 87 (1), 52-59, 2010 | 289 | 2010 |
| Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology AE Frazier, DR Thorburn, AG Compton Journal of Biological Chemistry 294 (14), 5386-5395, 2019 | 263 | 2019 |
| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 242 | 2014 |
| Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation EJ Tucker, SG Hershman, C Köhrer, CA Belcher-Timme, J Patel, ... Cell metabolism 14 (3), 428-434, 2011 | 215 | 2011 |
| Respiratory chain complex I deficiency caused by mitochondrial DNA mutations H Swalwell, DM Kirby, EL Blakely, A Mitchell, R Salemi, C Sugiana, ... European Journal of Human Genetics 19 (7), 769-775, 2011 | 150 | 2011 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 143 | 2017 |
| Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression EJ Tucker, BFJ Wanschers, R Szklarczyk, HS Mountford, XW Wijeyeratne, ... PLoS genetics 9 (12), e1004034, 2013 | 137 | 2013 |
| Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ... The American Journal of Human Genetics 101 (2), 239-254, 2017 | 131 | 2017 |
| Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes SC Lim, M Friemel, JE Marum, EJ Tucker, DL Bruno, LG Riley, ... Human molecular genetics 22 (22), 4460-4473, 2013 | 124 | 2013 |
| Diagnosis and etiology of congenital muscular dystrophy RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, ... Neurology 71 (5), 312-321, 2008 | 122 | 2008 |
| Limb–girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis HP Lo, ST Cooper, FJ Evesson, JT Seto, M Chiotis, V Tay, AG Compton, ... Neuromuscular disorders 18 (1), 34-44, 2008 | 121 | 2008 |
| Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy AG Compton, DE Albrecht, JT Seto, ST Cooper, B Ilkovski, KJ Jones, ... The American Journal of Human Genetics 83 (6), 714-724, 2008 | 86 | 2008 |
| A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl Neuropediatrics 48 (04), 309-314, 2017 | 84 | 2017 |
| Expression of aquaporin 1 in human cardiac and skeletal muscle CG Au, ST Cooper, HP Lo, AG Compton, N Yang, EM Wintour, KN North, ... Journal of molecular and cellular cardiology 36 (5), 655-662, 2004 | 79 | 2004 |
| A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome SC Lim, KR Smith, DA Stroud, AG Compton, EJ Tucker, A Dasvarma, ... The American Journal of Human Genetics 94 (2), 209-222, 2014 | 76 | 2014 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature medicine 29 (7), 1681-1691, 2023 | 74 | 2023 |
| Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype CL Alston, AG Compton, LE Formosa, V Strecker, M Oláhová, TB Haack, ... The American Journal of Human Genetics 99 (1), 217-227, 2016 | 74 | 2016 |