Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction H Ræder, S Johansson, PI Holm, IS Haldorsen, E Mas, V Sbarra, ... Nature genetics 38 (1), 54-62, 2006 | 456 | 2006 |
Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy JV Sagen, H Ræder, E Hathout, N Shehadeh, K Gudmundsson, H Bævre, ... Diabetes 53 (10), 2713-2718, 2004 | 455 | 2004 |
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes A Molven, M Ringdal, AM Nordbø, H Ræder, J Støy, GM Lipkind, ... Diabetes 57 (4), 1131-1135, 2008 | 264 | 2008 |
Diabetes relief in mice by glucose-sensing insulin-secreting human α-cells K Furuyama, S Chera, L van Gurp, D Oropeza, L Ghila, N Damond, ... Nature 567 (7746), 43-48, 2019 | 246 | 2019 |
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification SH Rafaelsen, H Ræder, AK Fagerheim, P Knappskog, TO Carpenter, ... Journal of Bone and Mineral Research 28 (6), 1378-1385, 2013 | 173 | 2013 |
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications S Rafaelsen, S Johansson, H Ræder, R Bjerknes European journal of endocrinology 174 (2), 125-136, 2016 | 161 | 2016 |
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young*[S] AKK Teo, R Windmueller, BB Johansson, E Dirice, PR Njolstad, E Tjora, ... Journal of Biological Chemistry 288 (8), 5353-5356, 2013 | 138 | 2013 |
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes G Thanabalasingham, N Shah, M Vaxillaire, T Hansen, T Tuomi, ... Diabetologia 54, 2801-2810, 2011 | 138 | 2011 |
Anatomy and evolution of database search engines—a central component of mass spectrometry based proteomic workflows K Verheggen, H Ræder, FS Berven, L Martens, H Barsnes, M Vaudel Mass spectrometry reviews 39 (3), 292-306, 2020 | 137 | 2020 |
Lack of pancreatic body and tail in HNF1B mutation carriers IS Haldorsen, M Vesterhus, H Raeder, DK Jensen, O Søvik, A Molven, ... Diabetic Medicine 25 (7), 782-787, 2008 | 131 | 2008 |
Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based … JK Hertel, S Johansson, H Raeder, K Midthjell, V Lyssenko, L Groop, ... Diabetologia 51, 971-977, 2008 | 126 | 2008 |
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease BB Johansson, J Torsvik, L Bjørkhaug, M Vesterhus, A Ragvin, E Tjora, ... Journal of Biological Chemistry 286 (40), 34593-34605, 2011 | 124 | 2011 |
Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase H Ræder, IS Haldorsen, L Ersland, R Gruner, T Taxt, O Søvik, A Molven, ... Diabetes 56 (2), 444-449, 2007 | 114 | 2007 |
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes J Torsvik, S Johansson, A Johansen, J Ek, J Minton, H Ræder, S Ellard, ... Human genetics 127, 55-64, 2010 | 108 | 2010 |
Exploring the potential of public proteomics data M Vaudel, K Verheggen, A Csordas, H Ræder, FS Berven, L Martens, ... Proteomics 16 (2), 214-225, 2016 | 98 | 2016 |
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease BB Johansson, K Fjeld, K El Jellas, A Gravdal, M Dalva, E Tjora, H Ræder, ... Pancreatology 18 (1), 12-19, 2018 | 82 | 2018 |
Early developmental perturbations in a human stem cell model of MODY5/HNF1B pancreatic hypoplasia AKK Teo, HH Lau, IA Valdez, E Dirice, E Tjora, H Raeder, RN Kulkarni Stem Cell Reports 6 (3), 357-367, 2016 | 72 | 2016 |
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study) SÅ Eide, H Raeder, S Johansson, K Midthjell, O Søvik, PR Njølstad, ... Diabetic Medicine 25 (7), 775-781, 2008 | 70 | 2008 |
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet H Ræder, N Shaw, C Netelenbos, R Bjerknes European Journal of Endocrinology 159 (Supplement_1), S101-S105, 2008 | 66 | 2008 |
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry JV Sagen, L Bjørkhaug, J Molnes, H Ræder, L Grevle, O Søvik, A Molven, ... Pediatric diabetes 9 (5), 442-449, 2008 | 64 | 2008 |