PubRank

Joep C Defesche

Author PubWeight™ 53.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013 3.58
2 Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008 2.62
3 Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. Eur Heart J 2008 1.80
4 Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 2006 1.68
5 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 2011 1.65
6 Apolipoprotein isoform E4 does not increase coronary heart disease risk in carriers of low-density lipoprotein receptor mutations. Circ Cardiovasc Genet 2011 1.44
7 Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia. J Hypertens 2008 1.39
8 Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008 1.26
9 Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 2005 1.23
10 Familial hypercholesterolemia: current treatment and advances in management. Expert Rev Cardiovasc Ther 2008 1.18
11 Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013 1.03
12 Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 2002 1.03
13 Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. Arterioscler Thromb Vasc Biol 2005 1.03
14 High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. Hum Mutat 2011 1.01
15 Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J 2012 0.99
16 Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein. Eur Heart J 2013 0.99
17 Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch Intern Med 2003 0.99
18 Usefulness of genetic polymorphisms and conventional risk factors to predict coronary heart disease in patients with familial hypercholesterolemia. Am J Cardiol 2008 0.97
19 Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004 0.95
20 Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. Mol Genet Metab 2009 0.93
21 The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famine. Diabetes Care 2006 0.92
22 Lysosomal acid lipase A and the hypercholesterolaemic phenotype. Curr Opin Lipidol 2013 0.92
23 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem 2009 0.91
24 Phenotypic variability in familial hypercholesterolaemia: an update. Curr Opin Lipidol 2002 0.90
25 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat 2010 0.90
26 Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2005 0.90
27 Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children. Circulation 2003 0.89
28 Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia. Eur J Hum Genet 2005 0.86
29 Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J 2012 0.85
30 Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia. Eur Heart J 2006 0.85
31 Two common haplotypes of the glucocorticoid receptor gene are associated with increased susceptibility to cardiovascular disease in men with familial hypercholesterolemia. J Clin Endocrinol Metab 2008 0.84
32 The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. Eur Heart J 2009 0.83
33 Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia. Atherosclerosis 2008 0.83
34 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. Hum Mutat 2011 0.83
35 A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia. J Clin Endocrinol Metab 2006 0.82
36 Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia. Eur Heart J 2008 0.81
37 A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients. Eur Heart J 2010 0.79
38 Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations. Ann Intern Med 2008 0.79
39 A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe. J Mol Diagn 2013 0.79
40 Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia. Eur Heart J 2008 0.79
41 Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk. Semin Vasc Med 2004 0.79
42 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations. Eur J Hum Genet 2012 0.78
43 Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality. Atherosclerosis 2011 0.78
44 Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia. Eur J Hum Genet 2005 0.77
45 Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. J Inherit Metab Dis 2006 0.77
46 High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. Ann Clin Biochem 2008 0.77
47 Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study. Atherosclerosis 2004 0.76
48 The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia. Pediatr Res 2003 0.76
49 5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia. Atherosclerosis 2009 0.75
50 Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia. Genet Test 2003 0.75
51 Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands. Cholesterol 2013 0.75
52 What promise does PCSK9 hold? J Am Coll Cardiol 2005 0.75
53 [Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society]. Turk Kardiyol Dern Ars 2015 0.75
54 Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. J Appl Genet 2008 0.75
55 Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin. Atherosclerosis 2010 0.75
56 In memoriam: Dato Dr Khoo Kah-Lin--obituary. Atherosclerosis 2015 0.75