Robert A. Hegele Robarts Research Institute, Schulich School of Medicine and Dentistry Western University Biography Publications Institution JoVE Articles Robert A. Hegele has not added a biography. If you are Robert A. Hegele and would like to personalize this page please email our Author Liaison for assistance. Publications Complex Genetic Architecture in Severe Hypobetalipoproteinemia Lipids in Health and Disease. Mar, 2018 | Pubmed ID: 29540175 Whole Genome Sequencing in the Clinic: Empowerment or Too Much Information? CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne. Feb, 2018 | Pubmed ID: 29431109 Secondary Causes of Chylomicronemia: Defining the Underside of the Iceberg Journal of Internal Medicine. Apr, 2018 | Pubmed ID: 29392780 Learning From Patients With Ultrarare Conditions: Cholesterol Hoof Beats Journal of the American College of Cardiology. Jan, 2018 | Pubmed ID: 29348021 Ezetimibe Prescriptions in Older Canadian Adults After an Acute Myocardial Infarction: a Population-based Cohort Study Lipids in Health and Disease. Jan, 2018 | Pubmed ID: 29310674 Nutraceuticals in 2017: Nutraceuticals in Endocrine Disorders Nature Reviews. Endocrinology. Feb, 2018 | Pubmed ID: 29286047 A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA P.T10I Mutation The Journal of Clinical Endocrinology and Metabolism. Mar, 2018 | Pubmed ID: 29267953 OPTN P.Met468Arg and ATXN2 Intermediate Length PolyQ Extension in Families with C9orf72 Mediated Amyotrophic Lateral Sclerosis and Frontotemporal Dementia American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Jan, 2018 | Pubmed ID: 29080331 Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe Clinical Chemistry. Feb, 2018 | Pubmed ID: 29038147 HDL and Atherosclerotic Cardiovascular Disease: Genetic Insights into Complex Biology Nature Reviews. Cardiology. Jan, 2018 | Pubmed ID: 28795686 Fatty Liver in a Non-obese Patient Paediatrics & Child Health. May, 2017 | Pubmed ID: 29479178 The Atherogenic Dyslipidemia Complex and Novel Approaches to Cardiovascular Disease Prevention in Diabetes The Canadian Journal of Cardiology. Dec, 2017 | Pubmed ID: 29459241 Food Effect on Rosuvastatin Disposition and Low-Density Lipoprotein Cholesterol Clinical Pharmacology and Therapeutics. Dec, 2017 | Pubmed ID: 29218707 Identification of a Novel Synaptic Protein, TMTC3, Involved in Periventricular Nodular Heterotopia with Intellectual Disability and Epilepsy Human Molecular Genetics. Nov, 2017 | Pubmed ID: 28973161 ARHGEF28 P.Lys280Metfs40Ter in an Amyotrophic Lateral Sclerosis Family with a C9orf72 Expansion Neurology. Genetics. Oct, 2017 | Pubmed ID: 28971145 Recent Advances in the Genetics of Atherothrombotic Disease and Its Determinants Arteriosclerosis, Thrombosis, and Vascular Biology. Oct, 2017 | Pubmed ID: 28954809 The Apolipoprotein C-III (Gln38Lys) Variant Associated with Human Hypertriglyceridemia is a Gain-of-function Mutation Journal of Lipid Research. Nov, 2017 | Pubmed ID: 28887372 Use of Next-generation Sequencing to Detectgene Copy Number Variation in Familial Hypercholesterolemia Journal of Lipid Research. Nov, 2017 | Pubmed ID: 28874442 Polygenic Determinants in Extremes of High-density Lipoprotein Cholesterol Journal of Lipid Research. Nov, 2017 | Pubmed ID: 28870971 Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels The Journal of Molecular Diagnostics : JMD. Nov, 2017 | Pubmed ID: 28818680 Tools for Enhancement and Quality Improvement of Peer Assessment and Clinical Care in Endocrinology and Metabolism Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry. Jul, 2017 | Pubmed ID: 28739080 Lomitapide for the Treatment of Hypercholesterolemia Expert Opinion on Pharmacotherapy. Aug, 2017 | Pubmed ID: 28598687 Clinical Utility Gene Card For: Tangier Disease European Journal of Human Genetics : EJHG. 06, 2017 | Pubmed ID: 28537273 Genetics of Triglycerides and the Risk of Atherosclerosis Current Atherosclerosis Reports. Jul, 2017 | Pubmed ID: 28534127 Recent Advances in Genetic Testing for Familial Hypercholesterolemia Expert Review of Molecular Diagnostics. Jul, 2017 | Pubmed ID: 28524730 PCSK9 Inhibitors: Smooth Sailing or a Little Turbulence Ahead? The Lancet. Diabetes & Endocrinology. Jul, 2017 | Pubmed ID: 28483371 Hypertension Canada's 2017 Guidelines for Diagnosis, Risk Assessment, Prevention, and Treatment of Hypertension in Adults The Canadian Journal of Cardiology. May, 2017 | Pubmed ID: 28449828 Insulin Affordability The Lancet. Diabetes & Endocrinology. May, 2017 | Pubmed ID: 28434485 Heterozygous Familial Hypercholesterolemia Presenting As Chylomicronemia Syndrome Journal of Clinical Lipidology. Jan - Feb, 2017 | Pubmed ID: 28391899 Treatment of Severe Hypercholesterolemia in a Woman With Advanced Primary Sclerosing Cholangitis JAMA Cardiology. May, 2017 | Pubmed ID: 28384790 Barriers to the Implementation of Lipoprotein Apheresis in Canada The Canadian Journal of Cardiology. Mar, 2017 | Pubmed ID: 28232020 A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis The Journal of Clinical Endocrinology and Metabolism. May, 2017 | Pubmed ID: 28201738 Complexity of Mechanisms Among Human Proprotein Convertase Subtilisin-kexin Type 9 Variants Current Opinion in Lipidology. Apr, 2017 | Pubmed ID: 28157721 Functional Foods and Dietary Supplements for the Management of Dyslipidaemia Nature Reviews. Endocrinology. 05, 2017 | Pubmed ID: 28133369 Genetics for the Identification of Lipid Targets Beyond PCSK9 The Canadian Journal of Cardiology. Mar, 2017 | Pubmed ID: 28109622 Clinical Utility Gene Card For: Sitosterolaemia European Journal of Human Genetics : EJHG. 04, 2017 | Pubmed ID: 28029149 The Ontario Neurodegenerative Disease Research Initiative (ONDRI) The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. Mar, 2017 | Pubmed ID: 28003035 KMT2D P.Gln3575His Segregating in a Family with Autosomal Dominant Choanal Atresia Strengthens the Kabuki/CHARGE Connection American Journal of Medical Genetics. Part A. Jan, 2017 | Pubmed ID: 27991736 Identification and Characterization of Trimethylamine-N-oxide Uptake and Efflux Transporters Molecular Pharmaceutics. 01, 2017 | Pubmed ID: 27977217 PCSK9 Inhibition and Diabetes: Turning to Mendel for Clues The Lancet. Diabetes & Endocrinology. 02, 2017 | Pubmed ID: 27939390 Seeking 'meta Guidelines' for Lipids European Journal of Preventive Cardiology. 01, 2017 | Pubmed ID: 27807189 PCSK9: Regulation and Target for Drug Development for Dyslipidemia Annual Review of Pharmacology and Toxicology. Jan, 2017 | Pubmed ID: 27575716 The ONDRISeq Panel: Custom-designed Next-generation Sequencing of Genes Related to Neurodegeneration NPJ Genomic Medicine. 2016 | Pubmed ID: 29263818 Genetics of Lipid and Lipoprotein Disorders and Traits Current Genetic Medicine Reports. 2016 | Pubmed ID: 28286704 Variants in ANGPTL4 and the Risk of Coronary Artery Disease The New England Journal of Medicine. 12, 2016 | Pubmed ID: 28112898 Lomitapide for the Treatment of Hypertriglyceridemia Expert Opinion on Investigational Drugs. Dec, 2016 | Pubmed ID: 27785928 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically Arteriosclerosis, Thrombosis, and Vascular Biology. Dec, 2016 | Pubmed ID: 27765764 New Oral Agents for Treating Dyslipidemia Current Opinion in Lipidology. Dec, 2016 | Pubmed ID: 27676196 Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young Canadian Journal of Diabetes. Dec, 2016 | Pubmed ID: 27634015 Multidimensional Regulation of Lipoprotein Lipase: Impact on Biochemical and Cardiovascular Phenotypes Journal of Lipid Research. 09, 2016 | Pubmed ID: 27412676 Whole-genome Sequencing in French Canadians from Quebec Human Genetics. Nov, 2016 | Pubmed ID: 27376640 Complying With the National Institutes of Health Guidelines and Principles for Rigor and Reproducibility: Refutations Arteriosclerosis, Thrombosis, and Vascular Biology. Jul, 2016 | Pubmed ID: 27335467 Pharmacological Targeting of the Atherogenic Dyslipidemia Complex: The Next Frontier in CVD Prevention Beyond Lowering LDL Cholesterol Diabetes. 07, 2016 | Pubmed ID: 27329952 Defining Severe Familial Hypercholesterolaemia and the Implications for Clinical Management: a Consensus Statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel The Lancet. Diabetes & Endocrinology. Oct, 2016 | Pubmed ID: 27246162 Targeted Exonic Sequencing of GWAS Loci in the High Extremes of the Plasma Lipids Distribution Atherosclerosis. Jul, 2016 | Pubmed ID: 27182959 Proprietary Considerations in the Use of Cardiovascular Genetic Data The Canadian Journal of Cardiology. Nov, 2016 | Pubmed ID: 27166076 Rare Genetic Variants and High-Density Lipoprotein: Marching to a Different Drum Arteriosclerosis, Thrombosis, and Vascular Biology. Jun, 2016 | Pubmed ID: 27127203 Hypertension Canada's 2016 Canadian Hypertension Education Program Guidelines for Blood Pressure Measurement, Diagnosis, Assessment of Risk, Prevention, and Treatment of Hypertension The Canadian Journal of Cardiology. 05, 2016 | Pubmed ID: 27118291 Applying Atherosclerotic Risk Prevention Guidelines to Elderly Patients: A Bridge Too Far? The Canadian Journal of Cardiology. May, 2016 | Pubmed ID: 27040095 Pharmacogenetics of Lipid-Lowering Agents: Precision or Indecision Medicine? Current Atherosclerosis Reports. May, 2016 | Pubmed ID: 26993470 Improving the Monitoring and Care of Patients With Familial Hypercholesterolemia Journal of the American College of Cardiology. Mar, 2016 | Pubmed ID: 26988948 Statin Safety in Chinese: A Population-Based Study of Older Adults PloS One. 2016 | Pubmed ID: 26954681 Integrated Measure for Atherogenic Lipoproteins in the Modern Era: Risk Assessment Based on Apolipoprotein B Journal of the American College of Cardiology. Jan, 2016 | Pubmed ID: 26791068 Combined Hyperlipidemia: Familial but Not (usually) Monogenic Current Opinion in Lipidology. Apr, 2016 | Pubmed ID: 26709473 Erratum To: Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease Digestive Diseases and Sciences. Jan, 2016 | Pubmed ID: 26233551 Novel Therapeutics in Hypertriglyceridemia Current Opinion in Lipidology. Dec, 2015 | Pubmed ID: 26780002 Finding the Therapeutic Sweet Spot: Using Naturally Occurring Human Variants to Inform Drug Design Circulation. Cardiovascular Genetics. Oct, 2015 | Pubmed ID: 26487725 Nonstatin Low-Density Lipoprotein-Lowering Therapy and Cardiovascular Risk Reduction-Statement From ATVB Council Arteriosclerosis, Thrombosis, and Vascular Biology. Nov, 2015 | Pubmed ID: 26376908 Severe Hypertriglyceridemia Due to a Novel P.Q240H Mutation in the Lipoprotein Lipase Gene Lipids in Health and Disease. Sep, 2015 | Pubmed ID: 26337181 Trial Watch: Antisenses Working Overtime in Lipids Nature Reviews. Endocrinology. Oct, 2015 | Pubmed ID: 26303603 Old Gene, New Phenotype: Mutations in Heparan Sulfate Synthesis Enzyme, EXT2 Leads to Seizure and Developmental Disorder, No Exostoses Journal of Medical Genetics. Oct, 2015 | Pubmed ID: 26246518 Incident Diabetes With Statins: Biology, Artifact, or Both? The Canadian Journal of Cardiology. Aug, 2015 | Pubmed ID: 26211707 Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease Digestive Diseases and Sciences. Dec, 2015 | Pubmed ID: 26160437 The 2015 Canadian Hypertension Education Program Recommendations for Blood Pressure Measurement, Diagnosis, Assessment of Risk, Prevention, and Treatment of Hypertension The Canadian Journal of Cardiology. May, 2015 | Pubmed ID: 25936483 Cardiology Patient Page. Statin Intolerance Circulation. Mar, 2015 | Pubmed ID: 25825402 The New Dyslipidemia Guidelines: What is the Debate? The Canadian Journal of Cardiology. May, 2015 | Pubmed ID: 25816728 Chylomicronaemia--current Diagnosis and Future Therapies Nature Reviews. Endocrinology. Jun, 2015 | Pubmed ID: 25732519 Statin-associated Muscle Symptoms: Impact on Statin Therapy-European Atherosclerosis Society Consensus Panel Statement on Assessment, Aetiology and Management European Heart Journal. May, 2015 | Pubmed ID: 25694464 HDL Re-examined Current Opinion in Lipidology. Apr, 2015 | Pubmed ID: 25692348 A Homozygous PMS2 Founder Mutation with an Attenuated Constitutional Mismatch Repair Deficiency Phenotype Journal of Medical Genetics. May, 2015 | Pubmed ID: 25691505 Hypertriglyceridemia in the Genomic Era: a New Paradigm Endocrine Reviews. Feb, 2015 | Pubmed ID: 25554923 Congenital Sucrase-isomaltase Deficiency: Identification of a Common Inuit Founder Mutation CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne. Feb, 2015 | Pubmed ID: 25452324 G-protein Estrogen Receptor As a Regulator of Low-density Lipoprotein Cholesterol Metabolism: Cellular and Population Genetic Studies Arteriosclerosis, Thrombosis, and Vascular Biology. Jan, 2015 | Pubmed ID: 25395619 Simple Genetics Language As Source of Miscommunication Between Genetics Researchers and Potential Research Participants in Informed Consent Documents Public Understanding of Science (Bristol, England). Aug, 2015 | Pubmed ID: 24751688 A Novel MC4R Mutation Associated with Childhood-onset Obesity: A Case Report Paediatrics & Child Health. Dec, 2014 | Pubmed ID: 25587224 A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings with Late-onset Familial Partial Lipodystrophy The Canadian Journal of Cardiology. Dec, 2014 | Pubmed ID: 25475467 Doctor My Eyes: a Statin-cataract Connection? The Canadian Journal of Cardiology. Dec, 2014 | Pubmed ID: 25475455 Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia The Canadian Journal of Cardiology. Dec, 2014 | Pubmed ID: 25448461 The Effect of Infrequent Low-dose Rosuvastatin on the Lipid Profile The Canadian Journal of Cardiology. Nov, 2014 | Pubmed ID: 25442436 Treatment of Severe Hypertriglyceridaemia--authors' Reply The Lancet. Diabetes & Endocrinology. Nov, 2014 | Pubmed ID: 25439460 Is Plant-based Cardioprotection Evidence-based? The Canadian Journal of Cardiology. Oct, 2014 | Pubmed ID: 25138482 Linkage Analysis and Exome Sequencing Identify a Novel Mutation in KCTD7 in Patients with Progressive Myoclonus Epilepsy with Ataxia Epilepsia. Sep, 2014 | Pubmed ID: 25060828 Exome Sequencing: New Insights into Lipoprotein Disorders Current Cardiology Reports. Jul, 2014 | Pubmed ID: 24893940 The 2014 Canadian Hypertension Education Program Recommendations for Blood Pressure Measurement, Diagnosis, Assessment of Risk, Prevention, and Treatment of Hypertension The Canadian Journal of Cardiology. May, 2014 | Pubmed ID: 24786438 Inducing Thyrotoxicosis in the Liver to Treat Raised Cholesterol The Lancet. Diabetes & Endocrinology. Jun, 2014 | Pubmed ID: 24731675 The Polygenic Nature of Hypertriglyceridaemia: Implications for Definition, Diagnosis, and Management The Lancet. Diabetes & Endocrinology. Aug, 2014 | Pubmed ID: 24731657 LipidSeq: a Next-generation Clinical Resequencing Panel for Monogenic Dyslipidemias Journal of Lipid Research. Apr, 2014 | Pubmed ID: 24503134 Exome Sequencing Identifies NFS1 Deficiency in a Novel Fe-S Cluster Disease, Infantile Mitochondrial Complex II/III Deficiency Molecular Genetics & Genomic Medicine. Jan, 2014 | Pubmed ID: 24498631 Sequencing: the Next Generation--what is the Role of Whole-exome Sequencing in the Diagnosis of Familial Cardiovascular Diseases? The Canadian Journal of Cardiology. Feb, 2014 | Pubmed ID: 24461915 The 2013 Canadian Hypertension Education Program Recommendations for Blood Pressure Measurement, Diagnosis, Assessment of Risk, Prevention, and Treatment of Hypertension The Canadian Journal of Cardiology. May, 2013 | Pubmed ID: 23541660 Hypertriglyceridemia Nutrients. Mar, 2013 | Pubmed ID: 23525082 Clinical Equivalence of Proprietary and Generic Atorvastatin in Lipid Clinic Patients The Canadian Journal of Cardiology. Apr, 2013 | Pubmed ID: 22840301 Cholesteryl Ester Transfer Protein Inhibitors for Dyslipidemia: Focus on Dalcetrapib Drug Design, Development and Therapy. 2012 | Pubmed ID: 23055695 Riktade nästa generations sekvensering och bioinformatik Pipeline för att utvärdera genetiska determinanter av konstitutionella sjukdom Allison A. Dilliott1,2, Sali M.K. Farhan3, Mahdi Ghani4, Christine Sato4, Eric Liang5, Ming Zhang4, Adam D. McIntyre1, Henian Cao1, Lemuel Racacho6,7, John F. Robinson1, Michael J. Strong1,8, Mario Masellis9,10, Dennis E. Bulman6,7, Ekaterina Rogaeva4, Anthony Lang10,11, Carmela Tartaglia4,10, Elizabeth Finger12,13, Lorne Zinman9, John Turnbull14, Morris Freedman10,15, Rick Swartz9, Sandra E. Black9,16, Robert A. Hegele1,2 1Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 2Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, 3Analytic and Translational Genetics Unit, Center for Genomic Medicine, Harvard Medical School, Massachusetts General Hospital, Stanley Centre for Psychiatric Research, Broad Institute of MIT and Harvard, 4Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 5School of Medicine, Faculty of Health Sciences, Queen's University, 6Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, 7CHEO Research Institute, Faculty of Medicine, University of Ottawa, 8Department of Clinical Neurological Sciences, Western University, 9Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, 10Division of Neurology, Department of Medicine, University of Toronto, 11Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, 12Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, 13Parkwood Institute, St. Joseph's Health Care, 14Department of Medicine, Division of Neurology, McMaster University, 15Division of Neurology, Department of Medicine, Baycrest Health Sciences, 16Canadian Partnership for Stroke Recovery Sunnybrook Site, Sunnybrook Health Science Centre, University of Toronto JoVE 57266 유전학
Riktade nästa generations sekvensering och bioinformatik Pipeline för att utvärdera genetiska determinanter av konstitutionella sjukdom Allison A. Dilliott1,2, Sali M.K. Farhan3, Mahdi Ghani4, Christine Sato4, Eric Liang5, Ming Zhang4, Adam D. McIntyre1, Henian Cao1, Lemuel Racacho6,7, John F. Robinson1, Michael J. Strong1,8, Mario Masellis9,10, Dennis E. Bulman6,7, Ekaterina Rogaeva4, Anthony Lang10,11, Carmela Tartaglia4,10, Elizabeth Finger12,13, Lorne Zinman9, John Turnbull14, Morris Freedman10,15, Rick Swartz9, Sandra E. Black9,16, Robert A. Hegele1,2 1Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 2Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, 3Analytic and Translational Genetics Unit, Center for Genomic Medicine, Harvard Medical School, Massachusetts General Hospital, Stanley Centre for Psychiatric Research, Broad Institute of MIT and Harvard, 4Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 5School of Medicine, Faculty of Health Sciences, Queen's University, 6Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, 7CHEO Research Institute, Faculty of Medicine, University of Ottawa, 8Department of Clinical Neurological Sciences, Western University, 9Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, 10Division of Neurology, Department of Medicine, University of Toronto, 11Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, 12Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, 13Parkwood Institute, St. Joseph's Health Care, 14Department of Medicine, Division of Neurology, McMaster University, 15Division of Neurology, Department of Medicine, Baycrest Health Sciences, 16Canadian Partnership for Stroke Recovery Sunnybrook Site, Sunnybrook Health Science Centre, University of Toronto JoVE 57266 유전학