All Stories

  1. A tip of the CAP1 to cholesterol metabolism

    Article • European Heart Journal, October 2019, Oxford University Press (OUP)

    Dr Robert A Hegele

  2. Targeted sequencing reveals expanded genetic diversity of human transfer RNAs

    Article • RNA Biology, August 2019, Taylor & Francis

    Greg Gloor, Dr Robert A Hegele

  3. Severe Combined Dyslipidemia With a Complex Genetic Basis

    Article • Journal of Investigative Medicine High Impact Case Reports, January 2019, SAGE Publications

    Dr Robert A Hegele

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

    Article • SAGE Open Medical Case Reports, January 2018, SAGE Publications

    Dr Robert A Hegele

  5. A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

    Article • Journal of Investigative Medicine High Impact Case Reports, January 2018, SAGE Publications

    Dr Robert A Hegele

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

    Article • Journal of Investigative Medicine High Impact Case Reports, January 2018, SAGE Publications

    Dr Robert A Hegele

  7. Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe

    Article • Clinical Chemistry, October 2017, AACC

    Dr Robert A Hegele, James (Jay) Brophy

  8. Characterization of the I4399M variant of apolipoprotein(a): implications for altered prothrombotic properties of lipoprotein(a)

    Article • Journal of Thrombosis and Haemostasis, July 2017, Wiley

    James Gauld, Dr Robert A Hegele, Robert Ariens

  9. Lomitapide for the treatment of hypercholesterolemia

    Article • Expert Opinion on Pharmacotherapy, July 2017, Taylor & Francis

    Dr Robert A Hegele

  10. Recent advances in genetic testing for familial hypercholesterolemia

    Article • Expert Review of Molecular Diagnostics, May 2017, Taylor & Francis

    Dr Robert A Hegele

  11. Investigated treatments for lipoprotein lipase deficiency and related metabolic disorders

    Article • Expert Opinion on Orphan Drugs, April 2017, Taylor & Francis

    Dr Robert A Hegele

  12. A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2017, Endocrine Society

    Dr Robert A Hegele, Daniel Rader

  13. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia

    Article • Epilepsia, July 2014, Wiley

    Dr Robert A Hegele

  14. Severe Hypertriglyceridemia in Pregnancy

    Article • The Journal of Clinical Endocrinology & Metabolism, August 2012, Endocrine Society

    Dr Robert A Hegele