| Serum amino acid profiles and their alterations in colorectal cancer AB Leichtle, JM Nuoffer, U Ceglarek, J Kase, T Conrad, H Witzigmann, ... Metabolomics 8, 643-653, 2012 | 155 | 2012 |
| Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production P Amini, D Stojkov, A Felser, CB Jackson, C Courage, A Schaller, ... Nature communications 9 (1), 2958, 2018 | 146 | 2018 |
| Elimination of chronic viral infection by blocking CD27 signaling M Matter, B Odermatt, H Yagita, JM Nuoffer, AF Ochsenbein The Journal of experimental medicine 203 (9), 2145-2155, 2006 | 139 | 2006 |
| Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2-and L-2-hydroxyglutaric aciduria B Nota, EA Struys, A Pop, EE Jansen, MRF Ojeda, WA Kanhai, ... The American Journal of Human Genetics 92 (4), 627-631, 2013 | 137 | 2013 |
| Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal MA Landolt, JM Nuoffer, B Steinmann, A Superti-Furga The Journal of pediatrics 140 (5), 516-521, 2002 | 126 | 2002 |
| 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 | 111 | 2015 |
| Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain A Hirsch, D Hahn, P Kempná, G Hofer, JM Nuoffer, PE Mullis, CE Flück Endocrinology 153 (9), 4354-4366, 2012 | 104 | 2012 |
| Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency CB Jackson, JM Nuoffer, D Hahn, H Prokisch, B Haberberger, M Gautschi, ... Journal of medical genetics 51 (3), 170-175, 2014 | 99 | 2014 |
| Cross-sectional observational study of 208 patients with non-classical urea cycle disorders CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ... Journal of inherited metabolic disease 37, 21-30, 2014 | 94 | 2014 |
| 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 | 79 | 2017 |
| Inflammation and atrial remodeling after a mountain marathon M Wilhelm, T Zueger, S De Marchi, SF Rimoldi, N Brugger, R Steiner, ... Scandinavian journal of medicine & science in sports 24 (3), 519-525, 2014 | 72 | 2014 |
| Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia LJ Schlapbach, S Frey, S Bigler, C Manh-Nhi, C Aebi, M Nelle, JM Nuoffer BMC pediatrics 11, 1-8, 2011 | 69 | 2011 |
| Frequency and pathophysiology of acute liver failure in ornithine transcarbamylase deficiency (OTCD) A Laemmle, RC Gallagher, A Keogh, T Stricker, M Gautschi, JM Nuoffer, ... PLoS One 11 (4), e0153358, 2016 | 62 | 2016 |
| Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3-hydroxysteroid dehydrogenase type 2 and 17, 20 lyase activities E Samandari, P Kempná, JM Nuoffer, G Hofer, PE Mullis, CE Flück J Endocrinol 195 (3), 459-472, 2007 | 59 | 2007 |
| Evidence of carotid artery wall hypertrophy in homozygous homocystinuria JL Megnien, J Gariepy, JM Saudubray, JM Nuoffer, N Denarie, ... Circulation 98 (21), 2276-2281, 1998 | 57 | 1998 |
| Compositional Protein Analysis of High Density Lipoproteins in Hypercholesterolemia by Shotgun LC-MS/MS and Probabilistic Peptide Scoring* S M Heller, E Schlappritzi, D Stalder, JM Nuoffer, A Haeberli Molecular & Cellular Proteomics 6 (6), 1059-1072, 2007 | 56 | 2007 |
| Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet Z Ben-Ari, A Dalal, A Morry, S Pitlik, P Zinger, J Cohen, I Fattal, ... Journal of hepatology 52 (2), 292-295, 2010 | 54 | 2010 |
| Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene C Balmer, AV Pandey, V Rüfenacht, JM Nuoffer, P Fang, LJ Wong, ... Human mutation 35 (1), 27-35, 2014 | 51 | 2014 |
| Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2 C Schild, B Wermuth, D Trapp-Chiappini, F Egger, JM Nuoffer Clinical chemistry and laboratory medicine 46 (6), 876-877, 2008 | 51 | 2008 |
| Pancreatic carcinoma, pancreatitis, and healthy controls: metabolite models in a three-class diagnostic dilemma AB Leichtle, U Ceglarek, P Weinert, CT Nakas, JM Nuoffer, J Kase, ... Metabolomics 9, 677-687, 2013 | 50 | 2013 |
