| # | Title | Journal | Year | Citations |
|---|
| 1 | Cytokine Storm | New England Journal of Medicine | 2020 | 1,911 |
| 2 | Large-scale association analysis identifies new risk loci for coronary artery disease | Nature Genetics | 2013 | 1,439 |
| 3 | The Missing Diversity in Human Genetic Studies | Cell | 2019 | 838 |
| 4 | Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma | Cancer Cell | 2017 | 532 |
| 5 | Implementing genomic medicine in the clinic: the future is here | Genetics in Medicine | 2013 | 472 |
| 6 | Molecular Mechanisms of Cellular Cholesterol Efflux | Journal of Biological Chemistry | 2014 | 449 |
| 7 | Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease | Science | 2016 | 438 |
| 8 | Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting | Circulation | 2017 | 403 |
| 9 | Clinical Genetic Testing for Familial Hypercholesterolemia | Journal of the American College of Cardiology | 2018 | 387 |
| 10 | International, evidence-based consensus diagnostic criteria for HHV-8–negative/idiopathic multicentric Castleman disease | Blood | 2017 | 381 |
| 11 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | Nature Genetics | 2016 | 362 |
| 12 | Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel | Lancet Diabetes and Endocrinology,the | 2016 | 329 |
| 13 | Integrated Molecular Characterization of Testicular Germ Cell Tumors | Cell Reports | 2018 | 324 |
| 14 | Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention | Science | 2014 | 300 |
| 15 | Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation | Nature Genetics | 2022 | 250 |
| 16 | Apolipoprotein E isoforms and lipoprotein metabolism | IUBMB Life | 2014 | 236 |
| 17 | International, evidence-based consensus treatment guidelines for idiopathic multicentric Castleman disease | Blood | 2018 | 232 |
| 18 | Overview of Castleman disease | Blood | 2020 | 216 |
| 19 | BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers | Nature Communications | 2017 | 212 |
| 20 | Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood | Clinical Cancer Research | 2017 | 205 |
| 21 | The IGNITE network: a model for genomic medicine implementation and research | BMC Medical Genomics | 2015 | 189 |
| 22 | Inherited Mutations in Pheochromocytoma and Paraganglioma: Why All Patients Should Be Offered Genetic Testing | Annals of Surgical Oncology | 2013 | 182 |
| 23 | Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background | Cancer Genetics | 2012 | 177 |
| 24 | Inhibition of Angiopoietin-Like Protein 3 With a Monoclonal Antibody Reduces Triglycerides in Hypertriglyceridemia | Circulation | 2019 | 170 |
| 25 | Apolipoprotein(a) isoform size, lipoprotein(a) concentration, and coronary artery disease: a mendelian randomisation analysis | Lancet Diabetes and Endocrinology,the | 2017 | 165 |
| 26 | Concurrent MEK2 Mutation and BRAF Amplification Confer Resistance to BRAF and MEK Inhibitors in Melanoma | Cell Reports | 2013 | 162 |
| 27 | Deep immune profiling of MIS-C demonstrates marked but transient immune activation compared with adult and pediatric COVID-19 | Science Immunology | 2021 | 152 |
| 28 | Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism | Atherosclerosis | 2017 | 148 |
| 29 | Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas | Nature Communications | 2015 | 143 |
| 30 | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine | American Journal of Human Genetics | 2016 | 137 |
| 31 | Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer | Genetics in Medicine | 2015 | 128 |
| 32 | Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine | 2018 | 128 |
| 33 | Relation of Serum Lipids and Lipoproteins with Progression of CKD | Clinical Journal of the American Society of Nephrology: CJASN | 2014 | 124 |
| 34 | Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk | Clinical Cancer Research | 2017 | 122 |
| 35 | Is ABCA1 a lipid transfer protein? | Journal of Lipid Research | 2018 | 122 |
| 36 | A new perspective on NAFLD: Focusing on lipid droplets | Journal of Hepatology | 2022 | 118 |
| 37 | A Comprehensive Patient-Derived Xenograft Collection Representing the Heterogeneity of Melanoma | Cell Reports | 2017 | 117 |
| 38 | Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement | Lancet Diabetes and Endocrinology,the | 2020 | 114 |
| 39 | Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor | Nature Genetics | 2017 | 105 |
| 40 | “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing | Genetics in Medicine | 2012 | 101 |
| 41 | Marfan syndrome | Nature Reviews Disease Primers | 2021 | 99 |
| 42 | A Highly Bioavailable Omega-3 Free Fatty Acid Formulation Improves the Cardiovascular Risk Profile in High-Risk, Statin-Treated Patients With Residual Hypertriglyceridemia (the ESPRIT Trial) | Clinical Therapeutics | 2013 | 94 |
| 43 | Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype‐Guided Antiplatelet Therapy | Clinical Pharmacology and Therapeutics | 2018 | 94 |
| 44 | International evidence-based consensus diagnostic and treatment guidelines for unicentric Castleman disease | Blood Advances | 2020 | 94 |
| 45 | Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry | JAMA - Journal of the American Medical Association | 2019 | 93 |
| 46 | Experiences with obtaining informed consent for genomic sequencing | American Journal of Medical Genetics, Part A | 2015 | 91 |
| 47 | A taxonomy of medical uncertainties in clinical genome sequencing | Genetics in Medicine | 2017 | 91 |
| 48 | Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine | 2019 | 91 |
| 49 | High-Density Lipoprotein (HDL) Phospholipid Content and Cholesterol Efflux Capacity Are Reduced in Patients With Very High HDL Cholesterol and Coronary Disease | Arteriosclerosis, Thrombosis, and Vascular Biology | 2015 | 83 |
| 50 | The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real‐World Setting | Clinical and Translational Science | 2017 | 82 |
