| Genetic diagnosis of Mendelian disorders via RNA sequencing LS Kremer, DM Bader, C Mertes, R Kopajtich, G Pichler, A Iuso, TB Haack, ... Nature communications 8 (1), 15824, 2017 | 527 | 2017 |
| Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease F Distelmaier, WJH Koopman, LP Van Den Heuvel, RJ Rodenburg, ... Brain 132 (4), 833-842, 2009 | 374 | 2009 |
| OXPHOS mutations and neurodegeneration WJH Koopman, F Distelmaier, JAM Smeitink, PHGM Willems The EMBO journal 32 (1), 9-29, 2013 | 304 | 2013 |
| A guide to diagnosis and treatment of Leigh syndrome F Baertling, RJ Rodenburg, J Schaper, JA Smeitink, WJH Koopman, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 257-265, 2014 | 286 | 2014 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 160 | 2020 |
| NDUFA2 complex I mutation leads to Leigh disease SJG Hoefs, CEJ Dieteren, F Distelmaier, RJRJ Janssen, A Epplen, ... The American Journal of Human Genetics 82 (6), 1306-1315, 2008 | 157 | 2008 |
| Biotin treatment mimicking Graves’ disease S Kummer, D Hermsen, F Distelmaier New England Journal of Medicine 375 (7), 704-706, 2016 | 137 | 2016 |
| Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, ... The American Journal of Human Genetics 97 (1), 163-169, 2015 | 131 | 2015 |
| CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ... The American Journal of Human Genetics 96 (2), 245-257, 2015 | 129 | 2015 |
| Life cell quantification of mitochondrial membrane potential at the single organelle level F Distelmaier, WJH Koopman, ER Testa, AS De Jong, HG Swarts, ... Cytometry Part A: the journal of the International Society for Analytical …, 2008 | 126 | 2008 |
| CAD mutations and uridine-responsive epileptic encephalopathy J Koch, JA Mayr, B Alhaddad, C Rauscher, J Bierau, R Kovacs-Nagy, ... Brain 140 (2), 279-286, 2017 | 118 | 2017 |
| Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts C Staufner, TB Haack, MG Köpke, BK Straub, S Kölker, C Thiel, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016 | 115 | 2016 |
| UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors RD Jachimowicz, F Beleggia, J Isensee, BB Velpula, J Goergens, ... Cell 176 (3), 505-519. e22, 2019 | 113 | 2019 |
| Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling WJH Koopman, F Distelmaier, JJ Esseling, JAM Smeitink, PHGM Willems Methods 46 (4), 304-311, 2008 | 112 | 2008 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 108 | 2022 |
| Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration E Holzerova, K Danhauser, TB Haack, LS Kremer, M Melcher, I Ingold, ... Brain 139 (2), 346-354, 2016 | 101 | 2016 |
| The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency F Distelmaier, HJ Visch, JAM Smeitink, E Mayatepek, WJH Koopman, ... Journal of molecular medicine 87, 515-522, 2009 | 97 | 2009 |
| Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy LS Kremer, F Distelmaier, B Alhaddad, M Hempel, A Iuso, C Küpper, ... The American Journal of Human Genetics 98 (2), 358-362, 2016 | 95 | 2016 |
| Pseudotumor cerebri as an important differential diagnosis of papilledema in children F Distelmaier, U Sengler, M Messing-Juenger, B Assmann, E Mayatepek, ... Brain and Development 28 (3), 190-195, 2006 | 92 | 2006 |
| NAXE mutations disrupt the cellular NAD (P) HX repair system and cause a lethal neurometabolic disorder of early childhood LS Kremer, K Danhauser, D Herebian, DP Ramadža, ... The American Journal of Human Genetics 99 (4), 894-902, 2016 | 90 | 2016 |
