PubRank

Pål R Njølstad

Author PubWeight™ 68.18‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004 8.62
2 Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006 7.31
3 Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med 2011 3.94
4 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008 2.15
5 Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004 2.10
6 Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proc Natl Acad Sci U S A 2009 1.93
7 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 2013 1.91
8 The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes 2008 1.88
9 FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes 2011 1.75
10 Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004 1.60
11 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes 2006 1.20
12 Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged <15 years in Norway 1973-1982 and 1989-2003. Diabetes Care 2007 1.15
13 Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase. Diabetes 2007 1.09
14 ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2014 1.05
15 Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol 2008 1.05
16 Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev Mol Diagn 2011 1.02
17 De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. J Med Genet 2007 1.02
18 Exome sequencing and genetic testing for MODY. PLoS One 2012 1.00
19 A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Ann Rheum Dis 2009 0.99
20 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. J Biol Chem 2011 0.99
21 Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy. Diabetes 2006 0.98
22 Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. J Clin Endocrinol Metab 2003 0.98
23 Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J 2005 0.98
24 Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. FEBS J 2008 0.96
25 Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet 2009 0.93
26 A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. Diabetes 2006 0.91
27 Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid. Diabetes 2013 0.90
28 SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. J Biol Chem 2013 0.89
29 The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology 2012 0.89
30 Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatr Diabetes 2011 0.89
31 Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. J Clin Endocrinol Metab 2008 0.88
32 Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes 2012 0.87
33 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatr Diabetes 2008 0.86
34 Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Med Genet 2011 0.84
35 Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. Diabetes Care 2007 0.83
36 PI3-kinase mutation linked to insulin and growth factor resistance in vivo. J Clin Invest 2016 0.82
37 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes 2009 0.82
38 FOXP3 polymorphisms in type 1 diabetes and coeliac disease. J Autoimmun 2006 0.82
39 Enlarged nephrons and severe nondiabetic nephropathy in hepatocyte nuclear factor-1beta (HNF-1beta) mutation carriers. Kidney Int 2003 0.81
40 Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young). PLoS One 2013 0.81
41 GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation. Mol Cell Endocrinol 2013 0.80
42 Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies. BMC Endocr Disord 2010 0.79
43 Assessment of exocrine pancreatic function by secretin-stimulated magnetic resonance cholangiopancreaticography and diffusion-weighted imaging in healthy controls. J Magn Reson Imaging 2013 0.79
44 HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatr Diabetes 2011 0.79
45 Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. J Clin Endocrinol Metab 2015 0.78
46 Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care 2008 0.78
47 The role of pancreatic imaging in monogenic diabetes mellitus. Nat Rev Endocrinol 2011 0.78
48 Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care 2006 0.76
49 All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973-2013. Diabetologia 2015 0.76
50 [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]. Tidsskr Nor Laegeforen 2009 0.76
51 De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. BMJ Case Rep 2009 0.76
52 Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. Clin Chem 2011 0.75
53 Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family. Am J Med Genet 2002 0.75
54 Maternal and Neonatal Vitamin D Status are not Associated With Risk of Childhood Type 1 Diabetes: A Scandinavian Case-Cohort Study. Am J Epidemiol 2017 0.75