| Improving reporting standards for polygenic scores in risk prediction studies H Wand, SA Lambert, C Tamburro, MA Iacocca, JW O'Sullivan, C Sillari, ... Nature, 2020 | 383 | 2020 |
| Severe hypertriglyceridemia is primarily polygenic JS Dron, J Wang, H Cao, AD McIntyre, MA Iacocca, JR Menard, ... Journal of clinical lipidology 13 (1), 80-88, 2019 | 214 | 2019 |
| ClinVar database of global familial hypercholesterolemia‐associated DNA variants MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ... Human mutation 39 (11), 1631-1640, 2018 | 123 | 2018 |
| The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification JR Chora, MA Iacocca, L Tichý, H Wand, CL Kurtz, H Zimmermann, ... Genetics in Medicine 24 (2), 293-306, 2022 | 106 | 2022 |
| Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia MA Iacocca, J Wang, JS Dron, JF Robinson, AD McIntyre, H Cao, ... Journal of lipid research 58 (11), 2202-2209, 2017 | 85 | 2017 |
| Recent advances in genetic testing for familial hypercholesterolemia MA Iacocca, RA Hegele Expert review of molecular diagnostics 17 (7), 641-651, 2017 | 75 | 2017 |
| Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias JS Dron, J Wang, AD McIntyre, MA Iacocca, JF Robinson, MR Ban, H Cao, ... BMC Medical Genomics 13, 1-15, 2020 | 73 | 2020 |
| Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia MA Iacocca, J Wang, S Sarkar, JS Dron, T Lagace, AD McIntyre, P Lau, ... Canadian Journal of Cardiology 34 (10), 1316-1324, 2018 | 56 | 2018 |
| ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ... Genome medicine 14 (1), 6, 2022 | 55 | 2022 |
| Role of DNA copy number variation in dyslipidemias MA Iacocca, RA Hegele Current Opinion in Lipidology 29 (2), 125-132, 2018 | 50 | 2018 |
| Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia JS Dron, J Wang, AJ Berberich, MA Iacocca, H Cao, P Yang, J Knoll, ... Journal of Lipid Research 59 (8), 1529-1535, 2018 | 32 | 2018 |
| Progress in finding pathogenic DNA copy number variations in dyslipidemia. MA Iacocca, JS Dron, RA Hegele Current opinion in lipidology, 2019 | 25 | 2019 |
| An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics A Celaj, AJ Gao, TTY Lau, EM Holgersen, A Lo, V Lodaya, CB Cole, ... bioRxiv, 2023.09. 20.558508, 2023 | 23 | 2023 |
| ClinGen Familial Hypercholesterolemia Expert Panel. The clinical genome resource (clingen) familial hypercholesterolemia variant curation expert panel consensus guidelines for … JR Chora, MA Iacocca, L Tichý, H Wand, CL Kurtz, H Zimmermann, ... Genet Med 24 (2), 293-306, 2022 | 16 | 2022 |
| Genetic determinants of myocardial infarction risk in familial hypercholesterolemia PJ Zhao, MR Ban, MA Iacocca, AD McIntyre, J Wang, RA Hegele CJC open 1 (5), 225-230, 2019 | 12 | 2019 |
| Efficacy of evolocumab in monogenic vs polygenic hypercholesterolemia T Lee, MA Iacocca, MR Ban, RA Hegele CJC open 1 (3), 115-118, 2019 | 8 | 2019 |
| ClinGen FH Variant Curation Expert Panel MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ... ClinVar database of global familial hypercholesterolemia-associated DNA …, 2018 | 7 | 2018 |
| ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines CG Preston, MW Wright, R Madhavrao, SM Harrison, JL Goldstein, X Luo, ... medRxiv, 2021.02. 12.21251663, 2021 | 2 | 2021 |
| Improving the genetic diagnosis of familial hypercholesterolemia M Iacocca The University of Western Ontario (Canada), 2019 | 2 | 2019 |
| DNA copy number variation screening in familial hypercholesterolemia-related genes RAH MA Iacocca, J Wang, JS Dron, H Cao, JF Robinson, AD McIntyre Atherosclerosis 275, e79, 2018 | 2 | 2018 |
Rob HegeleWestern University, Robarts Research Instituteایمیل تأیید شده در robarts.ca