Published in J Hum Genet on July 25, 2006
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A (2009) 1.26
A possible cranio-oro-facial phenotype in Cockayne syndrome. Orphanet J Rare Dis (2013) 0.88
The Multifunctions of WD40 Proteins in Genome Integrity and Cell Cycle Progression. J Genomics (2015) 0.84
Connecting the Dots: From DNA Damage and Repair to Aging. Int J Mol Sci (2016) 0.80
Identification of Reproduction-Related Gene Polymorphisms Using Whole Transcriptome Sequencing in the Large White Pig Population. G3 (Bethesda) (2015) 0.76
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. Sci Rep (2017) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet (2010) 7.08
2012 update of the Canadian Cardiovascular Society guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult. Can J Cardiol (2013) 5.97
2009 Canadian Cardiovascular Society/Canadian guidelines for the diagnosis and treatment of dyslipidemia and prevention of cardiovascular disease in the adult - 2009 recommendations. Can J Cardiol (2009) 5.65
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet (2004) 4.20
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
Hypertriglyceridemia: its etiology, effects and treatment. CMAJ (2007) 3.42
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Narrative review: statin-related myopathy. Ann Intern Med (2009) 2.36
N-of-1 (single-patient) trials for statin-related myalgia. Ann Intern Med (2014) 2.28
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
Kinase mutations in human disease: interpreting genotype-phenotype relationships. Nat Rev Genet (2010) 2.14
SNP judgments and freedom of association. Arterioscler Thromb Vasc Biol (2002) 2.12
The 2007 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy. Can J Cardiol (2007) 2.01
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
The 2012 Canadian hypertension education program recommendations for the management of hypertension: blood pressure measurement, diagnosis, assessment of risk, and therapy. Can J Cardiol (2012) 1.86
The 2013 Canadian Hypertension Education Program recommendations for blood pressure measurement, diagnosis, assessment of risk, prevention, and treatment of hypertension. Can J Cardiol (2013) 1.85
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. J Clin Invest (2009) 1.83
Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis (2007) 1.79
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia. Circ Cardiovasc Genet (2011) 1.78
Polygenic determinants of severe hypertriglyceridemia. Hum Mol Genet (2008) 1.77
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes (2002) 1.77
Is raising HDL a futile strategy for atheroprotection? Nat Rev Drug Discov (2008) 1.74
Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). Lipids Health Dis (2007) 1.72
The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism. Nat Med (2011) 1.70
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) (2007) 1.67
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Genetic determinants of plasma triglycerides. J Lipid Res (2010) 1.63
Congenital and acquired long QT syndromes. Can J Cardiol (2003) 1.59
Clinical and public health assessment of benefits and risks of statins in primary prevention of coronary events: resolved and unresolved issues. Can J Cardiol (2008) 1.59
Genetic determinants of the metabolic syndrome. Nat Clin Pract Cardiovasc Med (2006) 1.55
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem (2007) 1.53
APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia. Nat Clin Pract Cardiovasc Med (2008) 1.52
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics (2006) 1.50
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency. Nephrol Dial Transplant (2007) 1.49
A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hum Mol Genet (2009) 1.49
Clinical equivalence of proprietary and generic atorvastatin in lipid clinic patients. Can J Cardiol (2012) 1.47
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). Arterioscler Thromb Vasc Biol (2007) 1.46
Complications of Type 2 Diabetes Among Aboriginal Canadians: prevalence and associated risk factors. Diabetes Care (2005) 1.46
Complex trait locus linkage mapping in atherosclerosis: time to take a step back before moving forward? Arterioscler Thromb Vasc Biol (2005) 1.46
The 2010 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy. Can J Cardiol (2010) 1.44
The 2009 Canadian Hypertension Education Program recommendations for the management of hypertension: Part 2--therapy. Can J Cardiol (2009) 1.42
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. Lipids Health Dis (2008) 1.41
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet (2003) 1.40
Ketogenic diet for the treatment of refractory epilepsy: a 10 year experience in children. Arq Neuropsiquiatr (2007) 1.40
Efficacy and plasma drug concentrations with nondaily dosing of rosuvastatin. Can J Cardiol (2013) 1.39
The 2011 Canadian Hypertension Education Program recommendations for the management of hypertension: blood pressure measurement, diagnosis, assessment of risk, and therapy. Can J Cardiol (2011) 1.38
Naringenin prevents dyslipidemia, apolipoprotein B overproduction, and hyperinsulinemia in LDL receptor-null mice with diet-induced insulin resistance. Diabetes (2009) 1.36
The heritability of mammographically dense and nondense breast tissue. Cancer Epidemiol Biomarkers Prev (2006) 1.35
Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease. Circ Cardiovasc Genet (2010) 1.33
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet (2006) 1.31
Comprehensive analysis of genomic variation in the LPA locus and its relationship to plasma lipoprotein(a) in South Asians, Chinese, and European Caucasians. Circ Cardiovasc Genet (2009) 1.30
Advances in genomic analysis of stroke: what have we learned and where are we headed? Stroke (2010) 1.30
Effects of intensive medical therapy on microemboli and cardiovascular risk in asymptomatic carotid stenosis. Arch Neurol (2009) 1.30
Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. CMAJ (2006) 1.30
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Hum Genet (2003) 1.29
Enzyme-sensitive magnetic resonance imaging targeting myeloperoxidase identifies active inflammation in experimental rabbit atherosclerotic plaques. Circulation (2009) 1.26
Genetic variation in PPARG encoding peroxisome proliferator-activated receptor gamma associated with carotid atherosclerosis. Stroke (2004) 1.26
The 2008 Canadian Hypertension Education Program recommendations for the management of hypertension: part 2 - therapy. Can J Cardiol (2008) 1.25
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample. Cardiovasc Diabetol (2008) 1.23
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. J Hum Genet (2002) 1.22
Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis (2008) 1.20
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
Regulation of macrophage cholesterol efflux through hydroxymethylglutaryl-CoA reductase inhibition: a role for RhoA in ABCA1-mediated cholesterol efflux. J Biol Chem (2005) 1.19
Metabolic syndrome and its components as predictors of incident type 2 diabetes mellitus in an Aboriginal community. CMAJ (2009) 1.19
Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? PLoS Genet (2009) 1.18
Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab (2007) 1.16
Selective up-regulation of LXR-regulated genes ABCA1, ABCG1, and APOE in macrophages through increased endogenous synthesis of 24(S),25-epoxycholesterol. J Biol Chem (2006) 1.15
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Can J Physiol Pharmacol (2009) 1.15
Genetic determinants of statin intolerance. Lipids Health Dis (2007) 1.15
HIV-associated dyslipidaemia: pathogenesis and treatment. Lancet Infect Dis (2007) 1.14
Adipokines and incident type 2 diabetes in an Aboriginal Canadian [corrected] population: the Sandy Lake Health and Diabetes Project. Diabetes Care (2008) 1.14
Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. J Lipid Res (2009) 1.14
Differences between carotid wall morphological phenotypes measured by ultrasound in one, two and three dimensions. Atherosclerosis (2005) 1.13
Noninvasive phenotypes of atherosclerosis: similar windows but different views. Stroke (2004) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Diagnosis, prevention, and management of statin adverse effects and intolerance: proceedings of a Canadian Working Group Consensus Conference. Can J Cardiol (2011) 1.12
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet (2004) 1.12
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. J Biol Chem (2007) 1.12
Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease. Genome Med (2009) 1.12
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. Am J Hum Genet (2010) 1.11
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab (2007) 1.11
Metabolic syndrome in aboriginal Canadians: prevalence and genetic associations. Atherosclerosis (2006) 1.11
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol (2005) 1.11
Phenomics: expanding the role of clinical evaluation in genomic studies. J Investig Med (2010) 1.10
Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol (2011) 1.10
Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young (2010) 1.10
Low incidence of cardiovascular disease among the Inuit--what is the evidence? Atherosclerosis (2003) 1.09
Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc (2006) 1.09