Publications by authors named "Robert A Hegele"

98Publications

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis.

Am J Med Genet A 2020 Oct 17;182(10):2284-2290. Epub 2020 Aug 17.

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61780DOI Listing
October 2020

Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.

Can J Diabetes 2020 Jun 8. Epub 2020 Jun 8.

Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jcjd.2020.06.001DOI Listing
June 2020

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an p.R349W Variant.

J Endocr Soc 2020 Oct 27;4(10):bvaa104. Epub 2020 Jul 27.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, and Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1210/jendso/bvaa104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485795PMC
October 2020

Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia.

J Clin Lipidol 2020 Jul 24. Epub 2020 Jul 24.

Cardiometabolics Unit, Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.07.010DOI Listing
July 2020

Genetics of Hypertriglyceridemia.

Front Endocrinol (Lausanne) 2020 24;11:455. Epub 2020 Jul 24.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, Western University, London, ON, Canada.

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http://dx.doi.org/10.3389/fendo.2020.00455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393009PMC
July 2020

2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia.

Arterioscler Thromb Vasc Biol 2020 09 30;40(9):1970-1981. Epub 2020 Jul 30.

Department of Biochemistry (R.A.H., J.S.D.), Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

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http://dx.doi.org/10.1161/ATVBAHA.120.313065DOI Listing
September 2020

A cautionary tale: Is this APOB whole-gene duplication actually pathogenic?

J Clin Lipidol 2020 Jun 15. Epub 2020 Jun 15.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.06.007DOI Listing
June 2020

Pediatric Dyslipidemia-Beyond Familial Hypercholesterolemia.

Can J Cardiol 2020 Sep 23;36(9):1362-1371. Epub 2020 Mar 23.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2020.03.020DOI Listing
September 2020

Primary Aldosteronism in Hypertension: More Than a Factoid.

Can J Cardiol 2020 Jul 3. Epub 2020 Jul 3.

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cjca.2020.06.022DOI Listing
July 2020

Molecular mechanism linking a novel PCSK9 copy number variant to severe hypercholesterolemia.

Atherosclerosis 2020 07 28;304:39-43. Epub 2020 May 28.

Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.05.013DOI Listing
July 2020

Loss-of-Function Variants in Patients With Severe Hypertriglyceridemia.

Arterioscler Thromb Vasc Biol 2020 08 25;40(8):1935-1941. Epub 2020 Jun 25.

From the Robarts Research Institute (J.S.D., A.A.D., A.L., A.D.M., J.W., H.C., R.A.H.), Western University, London, ON, Canada.

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http://dx.doi.org/10.1161/ATVBAHA.120.314168DOI Listing
August 2020

Triglyceride-rich particles: new actors in valvular aortic stenosis.

Eur Heart J 2020 Jun;41(24):2300-2303

Department of Medicine and Robarts Research Institute, Western University, London, Ontario N6A 5B7, Canada.

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http://dx.doi.org/10.1093/eurheartj/ehaa416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308543PMC
June 2020

Can genetic testing help in the management of dyslipidaemias?

Curr Opin Lipidol 2020 Aug;31(4):187-193

Departments of Biochemistry and Medicine, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1097/MOL.0000000000000690DOI Listing
August 2020

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

J Clin Lipidol 2020 Jul - Aug;14(4):398-413. Epub 2020 May 7.

Professor of Medicine and Biochemistry, Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.04.011DOI Listing
May 2020

What Is Familial Hypercholesterolemia, and Why Does It Matter?

Circulation 2020 Jun 1;141(22):1760-1763. Epub 2020 Jun 1.

Departments of Medicine and Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Canada (R.A.H.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.046961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299543PMC
June 2020

Hypertension Canada's 2020 Comprehensive Guidelines for the Prevention, Diagnosis, Risk Assessment, and Treatment of Hypertension in Adults and Children.

Can J Cardiol 2020 May;36(5):596-624

Division of Internal Medicine, Department of Medicine, McGill University, and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cjca.2020.02.086DOI Listing
May 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

From Laundry List to Rating Scheme: Selection of the Best Scientific Method.

Arterioscler Thromb Vasc Biol 2020 05 22;40(5):1018-1019. Epub 2020 Apr 22.

Department of Medicine, Western University, London, ON, Canada (R.A.H.).

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http://dx.doi.org/10.1161/ATVBAHA.119.313782DOI Listing
May 2020

Delisting : The Rise and Fall of a Putative Hypercholesterolemia Gene.

Arterioscler Thromb Vasc Biol 2020 04 25;40(4):847-849. Epub 2020 Mar 25.

Departments of Internal Medicine and Molecular Genetics, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas (J.D.H.).

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http://dx.doi.org/10.1161/ATVBAHA.120.314006DOI Listing
April 2020

Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.

CJC Open 2019 Sep 2;1(5):225-230. Epub 2019 Jul 2.

Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cjco.2019.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063643PMC
September 2019

Efficacy of Evolocumab in Monogenic vs Polygenic Hypercholesterolemia.

CJC Open 2019 May 15;1(3):115-118. Epub 2019 Mar 15.

Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cjco.2019.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063626PMC
May 2019

Clinical Utility and Practical Considerations of a Coronary Artery Disease Genetic Risk Score.

CJC Open 2019 Mar 29;1(2):69-75. Epub 2019 Mar 29.

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.cjco.2019.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063618PMC
March 2019

Intermittent chylomicronemia caused by intermittent GPIHBP1 autoantibodies.

J Clin Lipidol 2020 Mar - Apr;14(2):197-200. Epub 2020 Jan 31.

Departments of Medicine and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7166156PMC
January 2020

Research digest: next-generation lipoprotein therapeutics.

Lancet Diabetes Endocrinol 2020 03;8(3):190

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http://dx.doi.org/10.1016/S2213-8587(20)30032-2DOI Listing
March 2020

Regression of Xanthelasmas With Statin Treatment in a Normolipidemic Patient.

Ann Intern Med 2020 05 18;172(10):701-702. Epub 2020 Feb 18.

Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada (J.L., R.A.H.).

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http://dx.doi.org/10.7326/L19-0797DOI Listing
May 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

BMC Med Genomics 2020 02 10;13(1):23. Epub 2020 Feb 10.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 1151 Richmond St, London, ON, N6A 5B7, Canada.

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http://dx.doi.org/10.1186/s12920-020-0669-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011550PMC
February 2020

The polygenic nature of mild-to-moderate hypertriglyceridemia.

J Clin Lipidol 2020 Jan - Feb;14(1):28-34.e2. Epub 2020 Jan 14.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2020.01.003DOI Listing
January 2020

Tangier disease: update for 2020.

Curr Opin Lipidol 2020 04;31(2):80-84

Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network.

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http://dx.doi.org/10.1097/MOL.0000000000000669DOI Listing
April 2020

Annual Report on Sex in Preclinical Studies: Publications in 2018.

Arterioscler Thromb Vasc Biol 2020 01 23;40(1):e1-e9. Epub 2019 Dec 23.

From the Saha Cardiovascular Research Center and Department of Physiology, University of Kentucky, Lexington (H.S.L., A.D.).

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http://dx.doi.org/10.1161/ATVBAHA.119.313556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192230PMC
January 2020

LDL cholesterol: lower, faster, younger?

Lancet Diabetes Endocrinol 2020 01;8(1):5-7

Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5B7, Canada. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(19)30389-4DOI Listing
January 2020

Clinical review on triglycerides.

Eur Heart J 2020 01;41(1):99-109c

Department of Medicine, Robarts Research Institute, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1093/eurheartj/ehz785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938588PMC
January 2020

Familial Chylomicronemia Syndrome With a Novel Homozygous LPL Mutation Identified in Three Siblings in Their 50s.

Ann Intern Med 2020 04 19;172(7):500-502. Epub 2019 Nov 19.

University of Pennsylvania and Corporal Michael J. Crescenz VA Medical Center, Philadelphia, Pennsylvania (R.L.D.).

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http://dx.doi.org/10.7326/L19-0568DOI Listing
April 2020

Usefulness of Gemcabene in Homozygous Familial Hypercholesterolemia (from COBALT-1).

Am J Cardiol 2019 12 26;124(12):1876-1880. Epub 2019 Sep 26.

Metabolic & Atherosclerosis Research Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.amjcard.2019.09.010DOI Listing
December 2019

Evaluation of OM3-PL/FFA Pharmacokinetics After Single and Multiple Oral Doses in Healthy Volunteers.

Clin Ther 2019 12 1;41(12):2500-2516. Epub 2019 Nov 1.

Acasti Pharma Inc, Laval, Quebec, Canada.

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http://dx.doi.org/10.1016/j.clinthera.2019.10.003DOI Listing
December 2019

A tip of the CAP1 to cholesterol metabolism.

Eur Heart J 2020 01;41(2):253-254

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

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http://dx.doi.org/10.1093/eurheartj/ehz771DOI Listing
January 2020

Can one overcome "unhealthy genes"?

NPJ Genom Med 2019 2;4:24. Epub 2019 Oct 2.

Departments of Medicine and Biochemistry, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON Canada.

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http://dx.doi.org/10.1038/s41525-019-0099-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775120PMC
October 2019

Ischemic Event Reduction and Triglycerides.

J Am Coll Cardiol 2019 10;74(14):1848-1849

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http://dx.doi.org/10.1016/j.jacc.2019.04.071DOI Listing
October 2019

Severe Combined Dyslipidemia With a Complex Genetic Basis.

J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619877050

Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1177/2324709619877050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755624PMC
April 2020

Research digest: observing risks and benefits of diet and supplements.

Authors:
Robert A Hegele

Lancet Diabetes Endocrinol 2019 10 3;7(10):752. Epub 2019 Sep 3.

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http://dx.doi.org/10.1016/S2213-8587(19)30290-6DOI Listing
October 2019

Dyslipidemia Management in Adults With Diabetes.

Can J Diabetes 2020 Feb 12;44(1):53-60. Epub 2019 Jul 12.

Departments of Medicine and Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14992671193037
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http://dx.doi.org/10.1016/j.jcjd.2019.07.003DOI Listing
February 2020

Partial deletions: rare copy-number variants contributing towards severe hypertriglyceridemia.

J Lipid Res 2019 11 13;60(11):1953-1958. Epub 2019 Sep 13.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5B7, Canada

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http://dx.doi.org/10.1194/jlr.P119000335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824486PMC
November 2019

Practical definitions of severe versus familial hypercholesterolaemia and hypertriglyceridaemia for adult clinical practice.

Lancet Diabetes Endocrinol 2019 11 21;7(11):880-886. Epub 2019 Aug 21.

Departments of Medicine and Physiology, Division of Endocrinology and Metabolism, Banting and Best Diabetes Centre, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/S2213-8587(19)30156-1DOI Listing
November 2019

Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father-Son Pair With Advanced Nonalcoholic Fatty Liver Disease.

Hepatology 2020 01 10;71(1):383-385. Epub 2019 Oct 10.

Division of Gastroenterology and Hepatology, Indiana University School of Medicine, Indianapolis, IN.

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http://dx.doi.org/10.1002/hep.30874DOI Listing
January 2020

Research digest: seeking new lipid drug targets.

Authors:
Robert A Hegele

Lancet Diabetes Endocrinol 2019 08;7(8):594

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http://dx.doi.org/10.1016/S2213-8587(19)30225-6DOI Listing
August 2019

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.

Clin Genet 2019 10 15;96(4):376-377. Epub 2019 Jul 15.

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, N6A 5B7, Canada.

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http://dx.doi.org/10.1111/cge.13599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899894PMC
October 2019

Targeted next generation sequencing as a tool for precision medicine.

BMC Med Genomics 2019 06 3;12(1):81. Epub 2019 Jun 3.

Division of Clinical Pharmacology, Department of Medicine, Western University, London Health Sciences Centre - University Hospital, 339 Windermere Road, London, ON, N6A 5A5, Canada.

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http://dx.doi.org/10.1186/s12920-019-0527-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547602PMC
June 2019

Low LDL cholesterol-Friend or foe?

J Clin Lipidol 2019 May - Jun;13(3):367-373. Epub 2019 May 16.

Department of Pediatric Endocrinology, Cook Children's Medical Center, Ft Worth, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2019.05.006DOI Listing
March 2020

Atypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab.

J Clin Lipidol 2019 May - Jun;13(3):411-414. Epub 2019 Mar 6.

Department of Medicine and Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jacl.2019.02.006DOI Listing
May 2020

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young.

J Clin Endocrinol Metab 2019 08;104(8):3428-3436

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1210/jc.2018-02574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594302PMC
August 2019

Lipid-Lowering Agents.

Circ Res 2019 02;124(3):386-404

Sulpizio Cardiovascular Center, Vascular Medicine Program, University of California San Diego, La Jolla (S.T.).

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http://dx.doi.org/10.1161/CIRCRESAHA.118.313171DOI Listing
February 2019

Cholesterol-Lowering Agents.

Circ Res 2019 02;124(3):364-385

Deutsches Herzzentrum München, Technische Universität München, Munich, Germany (W.K.).

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http://dx.doi.org/10.1161/CIRCRESAHA.118.313238DOI Listing
February 2019

The evolution of genetic-based risk scores for lipids and cardiovascular disease.

Curr Opin Lipidol 2019 04;30(2):71-81

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University.

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http://dx.doi.org/10.1097/MOL.0000000000000576DOI Listing
April 2019

Editorial: designing targeted sequencing panels for dyslipidemia.

Authors:
Robert A Hegele

Curr Opin Lipidol 2019 04;30(2):53-55

Departments of Medicine and Biochemistry, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1097/MOL.0000000000000579DOI Listing
April 2019

Progress in finding pathogenic DNA copy number variations in dyslipidemia.

Curr Opin Lipidol 2019 04;30(2):63-70

Robarts Research Institute, and Department of Biochemistry, Schulich School of Medicine and Dentistry.

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http://dx.doi.org/10.1097/MOL.0000000000000581DOI Listing
April 2019

Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.

Atherosclerosis 2019 04 28;283:137-142. Epub 2018 Dec 28.

Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, Québec, Canada; Department of Medicine, Division of Experimental Medicine, McGill University, Québec, Canada; Department of Medicine, Division of Medical Biochemistry, McGill University, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.12.019DOI Listing
April 2019

Cannabis effects on lipoproteins.

Curr Opin Lipidol 2019 04;30(2):140-146

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University.

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http://dx.doi.org/10.1097/MOL.0000000000000575DOI Listing
April 2019

Cholesterol Lowering and Prevention of Stroke.

Stroke 2019 02;50(2):537-541

Division of Endocrinology and Metabolism, Department of Medicine (R.A.H.), Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1161/STROKEAHA.118.023167DOI Listing
February 2019

Update on the diagnosis, treatment and management of rare genetic lipid disorders.

Pathology 2019 Feb 28;51(2):193-201. Epub 2018 Dec 28.

School of Medicine, Faculty of Health & Medical Sciences, University of Western Australia, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network, Perth, WA, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2018.11.005DOI Listing
February 2019

Lipids and cardiovascular disease.

Pathology 2019 Feb 27;51(2):129-130. Epub 2018 Dec 27.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Robarts Research Institute, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pathol.2018.12.001DOI Listing
February 2019

Whole-exome sequencing identifies a novel insertion in an Ontario family with brachydactyly type A1.

SAGE Open Med Case Rep 2018 10;6:2050313X18818711. Epub 2018 Dec 10.

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

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http://journals.sagepub.com/doi/10.1177/2050313X18818711
Publisher Site
http://dx.doi.org/10.1177/2050313X18818711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295682PMC
December 2018

The role of genetic testing in dyslipidaemia.

Pathology 2019 Feb 14;51(2):184-192. Epub 2018 Dec 14.

Departments of Medicine and Biochemistry, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pathol.2018.10.014DOI Listing
February 2019

Severe hypertriglyceridemia is primarily polygenic.

J Clin Lipidol 2019 Jan - Feb;13(1):80-88. Epub 2018 Oct 24.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2018.10.006DOI Listing
May 2020

A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.

Endocr Pathol 2018 Dec;29(4):374-379

Division of Endocrinology and Metabolism, Department of Medicine, University of Toronto and Mount Sinai Hospital, Toronto, ON, M5T 3L9, Canada.

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http://link.springer.com/10.1007/s12022-018-9552-5
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http://dx.doi.org/10.1007/s12022-018-9552-5DOI Listing
December 2018

Recent Highlights of ATVB.

Arterioscler Thromb Vasc Biol 2018 11;38(11):e185-e197

From the Department of Biochemistry (J.S.D., J.L., R.A.H.), Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

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https://www.ahajournals.org/doi/10.1161/ATVBAHA.118.311581
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http://dx.doi.org/10.1161/ATVBAHA.118.311581DOI Listing
November 2018

Reporting Sex and Sex Differences in Preclinical Studies.

Arterioscler Thromb Vasc Biol 2018 10;38(10):e171-e184

From the Department of Physiology, Saha Cardiovascular Research Center, University of Kentucky, Lexington (H.S.L., A.D.).

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http://dx.doi.org/10.1161/ATVBAHA.118.311717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207213PMC
October 2018

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial c.8344A>G Variant.

J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709618802867. Epub 2018 Sep 29.

Western University, London, Ontario, Canada.

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http://journals.sagepub.com/doi/10.1177/2324709618802867
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http://dx.doi.org/10.1177/2324709618802867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166310PMC
September 2018

Complex effects of laminopathy mutations on nuclear structure and function.

Clin Genet 2019 02 23;95(2):199-209. Epub 2018 Oct 23.

Departments of Biochemistry and Medicine, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://doi.wiley.com/10.1111/cge.13455
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http://dx.doi.org/10.1111/cge.13455DOI Listing
February 2019

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry.

Atherosclerosis 2018 10;277:419-424

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, QC, Canada; Department of Medicine, McGill University, Royal Victoria Hospital, Montreal, QC, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00219150183028
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http://dx.doi.org/10.1016/j.atherosclerosis.2018.05.040DOI Listing
October 2018

Unusual genetic variants associated with hypercholesterolemia in Argentina.

Atherosclerosis 2018 10;277:256-261

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, INFIBIOC-UBA, Buenos Aires, Argentina. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.009DOI Listing
October 2018

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.

Can J Cardiol 2018 10 4;34(10):1316-1324. Epub 2018 Aug 4.

Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0828282X183099
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http://dx.doi.org/10.1016/j.cjca.2018.07.479DOI Listing
October 2018

Simplified Canadian Definition for Familial Hypercholesterolemia.

Can J Cardiol 2018 09 19;34(9):1210-1214. Epub 2018 May 19.

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada; Department of Medicine, McGill University, Royal Victoria Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cjca.2018.05.015DOI Listing
September 2018

Getting Real With PCSK9 Inhibitors in Familial Hypercholesterolemia.

Can J Cardiol 2018 08 9;34(8):959-961. Epub 2018 May 9.

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cjca.2018.05.006DOI Listing
August 2018

The Evolving Future of PCSK9 Inhibitors.

J Am Coll Cardiol 2018 07 9;72(3):314-329. Epub 2018 Jul 9.

Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jacc.2018.04.054DOI Listing
July 2018

The complex molecular genetics of familial hypercholesterolaemia.

Nat Rev Cardiol 2019 01;16(1):9-20

Departments of Medicine and Biochemistry, and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://www.nature.com/articles/s41569-018-0052-6
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http://dx.doi.org/10.1038/s41569-018-0052-6DOI Listing
January 2019

Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration.

J Clin Lipidol 2018 Sep - Oct;12(5):1146-1150. Epub 2018 Jun 1.

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jacl.2018.05.014DOI Listing
October 2019

PCSK9 inhibitors in familial hypercholesterolemia: What is the evidence?

J Clin Lipidol 2018 Sep - Oct;12(5):1106-1108. Epub 2018 May 26.

Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montreal, Québec, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Québec, Canada; Division of Medical Biochemistry, Department of Medicine, McGill University, Québec, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19332874183023
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http://dx.doi.org/10.1016/j.jacl.2018.05.010DOI Listing
October 2019

Large-scale deletions of the gene in patients with hypoalphalipoproteinemia.

J Lipid Res 2018 08 4;59(8):1529-1535. Epub 2018 Jun 4.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada

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http://dx.doi.org/10.1194/jlr.P086280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071767PMC
August 2018

Response by Daugherty et al to Letter Regarding Article, "Consideration of Sex Differences in Design and Reporting of Experimental Arterial Pathology Studies: A Statement From the Council".

Arterioscler Thromb Vasc Biol 2018 06;38(6):e101-e102

Institute for Cardiovascular Prevention, Ludwig-Maximilians-Universität (LMU) and German Centre for Cardiovascular Research (DZHK), partner site Munich Heart Alliance.

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http://dx.doi.org/10.1161/ATVBAHA.118.310988DOI Listing
June 2018