| Analysis of protein-coding genetic variation in 60,706 humans. EA Consortium Nature 536 (7616), 285-91, 2016 | 10255 | 2016 |
| Neonatal diabetes mellitus due to complete glucokinase deficiency PR Njølstad, O Søvik, A Cuesta-Muñoz, L Bjørkhaug, O Massa, F Barbetti, ... New England Journal of Medicine 344 (21), 1588-1592, 2001 | 563 | 2001 |
| 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 | 448 | 2006 |
| Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population K Estrada, I Aukrust, L Bjørkhaug, NP Burtt, JM Mercader, H García-Ortiz, ... Jama 311 (22), 2305-2314, 2014 | 272 | 2014 |
| Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway PR Njølstad, JV Sagen, L Bjørkhaug, S Odili, N Shehadeh, D Bakry, ... Diabetes 52 (11), 2854-2860, 2003 | 267 | 2003 |
| Hepatocyte nuclear factor-1α gene mutations and diabetes in Norway L Bjørkhaug, JV Sagen, P Thorsby, O Søvik, A Molven, PR Njølstad The Journal of Clinical Endocrinology & Metabolism 88 (2), 920-931, 2003 | 129 | 2003 |
| 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 | 122 | 2011 |
| From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation JV Sagen, S Odili, L Bjørkhaug, D Zelent, C Buettger, J Kwagh, C Stanley, ... Diabetes 55 (6), 1713-1722, 2006 | 95 | 2006 |
| Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population LA Najmi, I Aukrust, J Flannick, J Molnes, N Burtt, A Molven, L Groop, ... Diabetes 66 (2), 335-346, 2017 | 85 | 2017 |
| STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity K Heimdal, M Sanchez-Guixé, I Aukrust, J Bollerslev, O Bruland, ... Orphanet journal of rare diseases 9, 1-12, 2014 | 81 | 2014 |
| 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 | 63 | 2008 |
| High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism K Rozenkova, J Malikova, A Nessa, L Dusatkova, L Bjørkhaug, ... The Journal of Clinical Endocrinology & Metabolism 100 (12), E1540-E1549, 2015 | 54 | 2015 |
| Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes K Balamurugan, L Bjørkhaug, S Mahajan, S Kanthimathi, PR Njølstad, ... Clinical Genetics 90 (6), 486-495, 2016 | 52 | 2016 |
| Catalytic activation of human glucokinase by substrate binding – residue contacts involved in the binding of D‐glucose to the super‐open form and … J Molnes, L Bjørkhaug, O Søvik, PR Njølstad, T Flatmark The FEBS journal 275 (10), 2467-2481, 2008 | 45 | 2008 |
| Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation L Bjørkhaug, J Molnes, O Søvik, PR Njølstad, T Flatmark Journal of biological chemistry 282 (31), 22757-22764, 2007 | 42 | 2007 |
| MODY associated with two novel hepatocyte nuclear factor-1α loss-of-function mutations (P112L and Q466X) L Bjørkhaug, H Ye, Y Horikawa, O Søvik, A Molven, PR Njølstad Biochemical and biophysical research communications 279 (3), 792-798, 2000 | 42 | 2000 |
| SUMOylation of Pancreatic Glucokinase Regulates Its Cellular Stability and Activity*[S] I Aukrust, L Bjørkhaug, M Negahdar, J Molnes, BB Johansson, Y Müller, ... Journal of Biological Chemistry 288 (8), 5951-5962, 2013 | 40 | 2013 |
| The female menstrual cycles effect on strength and power parameters in high-level female team athletes MS Dasa, M Kristoffersen, E Ersvær, LP Bovim, L Bjørkhaug, ... Frontiers in physiology 12, 600668, 2021 | 36 | 2021 |
| Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation S Althari, LA Najmi, AJ Bennett, I Aukrust, JK Rundle, K Colclough, ... The American Journal of Human Genetics 107 (4), 670-682, 2020 | 36 | 2020 |
| A Hepatocyte Nuclear Factor-4α Gene (HNF4A) P2 Promoter Haplotype Linked With Late-Onset Diabetes: Studies of HNF4A Variants in the Norwegian MODY … H Ræder, L Bjørkhaug, S Johansson, K Mangseth, JV Sagen, A Hunting, ... diabetes 55 (6), 1899-1903, 2006 | 34 | 2006 |
Stefan JohanssonDepartment of Clinical Science, University of Bergen, Bergen Norwary在 biomed.uib.no 的电子邮件经过验证
