| 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), 1-11, 2017 | 571 | 2017 |
| Mitochondrial protein interaction mapping identifies regulators of respiratory chain function BJ Floyd, EM Wilkerson, MT Veling, CE Minogue, C Xia, ET Beebe, ... Molecular cell 63 (4), 621-632, 2016 | 287 | 2016 |
| Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 L Van Haute, S Dietmann, L Kremer, S Hussain, SF Pearce, CA Powell, ... Nature communications 7 (1), 1-10, 2016 | 232 | 2016 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 168 | 2013 |
| 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 | 137 | 2015 |
| Detection of aberrant splicing events in RNA-seq data using FRASER C Mertes, IF Scheller, VA Yépez, MH Çelik, Y Liang, LS Kremer, M Gusic, ... Nature communications 12 (1), 1-13, 2021 | 126 | 2021 |
| Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy TB Haack, E Ignatius, J Calvo-Garrido, A Iuso, P Isohanni, C Maffezzini, ... The American Journal of Human Genetics 99 (3), 735-743, 2016 | 125 | 2016 |
| COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ... The American Journal of Human Genetics 96 (2), 309-317, 2015 | 122 | 2015 |
| Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ... Annals of clinical and translational neurology 2 (5), 492-509, 2015 | 114 | 2015 |
| 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 | 107 | 2016 |
| TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ... The American Journal of Human Genetics 97 (2), 319-328, 2015 | 106 | 2015 |
| 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 | 104 | 2016 |
| 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 | 102 | 2016 |
| OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer VA Yépez, LS Kremer, A Iuso, M Gusic, R Kopajtich, E Koňaříková, ... PloS one 13 (7), e0199938, 2018 | 100 | 2018 |
| Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening TB Haack, M Gorza, K Danhauser, JA Mayr, B Haberberger, T Wieland, ... Molecular genetics and metabolism 111 (3), 342-352, 2014 | 98 | 2014 |
| The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics SL Stenton, LS Kremer, R Kopajtich, C Ludwig, H Prokisch Journal of inherited metabolic disease 43 (1), 25-35, 2020 | 85 | 2020 |
| Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ... The American Journal of Human Genetics 101 (4), 525-538, 2017 | 76 | 2017 |
| Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4 GJ Hildick-Smith, JD Cooney, C Garone, LS Kremer, TB Haack, JN Thon, ... The American Journal of Human Genetics 93 (5), 906-914, 2013 | 69 | 2013 |
| NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, ... Brain 142 (1), 50-58, 2019 | 64 | 2019 |
| Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2 H Kennedy, TB Haack, V Hartill, L Mataković, ER Baumgartner, H Potter, ... The American Journal of Human Genetics 99 (3), 674-682, 2016 | 59 | 2016 |
