

Biography
Professional Summary
Education & Certifications
- Fellowship: Stanford University Cardiovascular Medicine Fellowship (2010) CA
- Residency: Stanford University Internal Medicine Residency (2005) CA
- Board Certification: American Board of Internal Medicine, Cardiovascular Disease (2010)
- Medical Education: University of North Carolina - Chapel Hill (2003) NC
- PhD, University of North Carolina, Chapel Hill, Genetics and Molecular Biology (2001)
Awards & Memberships
- Alderman Award for Excellence in Clinical Research, Stanford Cardiovascular Medicine (2008, 2009)
- Clinical Scholar, Doris Duke Charitable Foundation (6/1/16-6/1/19)
- Dean's Fellowship, Stanford (2005)
- Diplomate, National Lipid Association (2012)
- Fellow, ACC (2012)
- Fellow, AHA (2012)
- Fellowship Award, Future Leaders in CV Medicine (2006)
- National Fellow to Faculty Transition Award, AHA (7/1/10-7/1/15)
- National Innovative Research Award, AHA
Administrative Appointments
- Chief Research Advisor, The Family Heart Foundation (2012 - Present)
- Co-Director, Translational Investigator Program (2017 - Present)
- Co-Section Chief. Metabolism and Insulin Signaling, Stanford Diabetes Research Center` (2017 - Present)
- Program Director, Cardiovascular Medicine Fellowship Program (2018 - Present)
Publications
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Enhanced atherosclerosis and kidney dysfunction in eNOS(-)/(-)Apo(-)/(-) mice are ameliorated by enalapril treatment
Knowles, J. W., Reddick, R. L., Jennette, J. C., Shesely, E. G., Smithies, O., & Maeda, N. (2000). Enhanced atherosclerosis and kidney dysfunction in eNOS(-)/(-)Apo(-)/(-) mice are ameliorated by enalapril treatment. JOURNAL OF CLINICAL INVESTIGATION, 105(4), 451–458. -
Genetic modifiers of atherosclerosis in mice
Knowles, J. W., & Maeda, N. (2000). Genetic modifiers of atherosclerosis in mice. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 20(11), 2336–2345. -
Pressure-independent enhancement of cardiac hypertrophy in natriuretic peptide receptor A-deficient mice
Knowles, J. W., Esposito, G., Mao, L., Hagaman, J. R., Fox, J. E., Smithies, O., … Maeda, N. (2001). Pressure-independent enhancement of cardiac hypertrophy in natriuretic peptide receptor A-deficient mice. JOURNAL OF CLINICAL INVESTIGATION, 107(8), 975–984. -
Evidence for a novel natriuretic peptide receptor that prefers brain natriuretic peptide over atrial natriuretic peptide
Goy, M. F., Oliver, P. M., Purdy, K. E., Knowles, J. W., Fox, J. E., Mohler, P. J., … Maeda, N. (2001). Evidence for a novel natriuretic peptide receptor that prefers brain natriuretic peptide over atrial natriuretic peptide. BIOCHEMICAL JOURNAL, 358, 379–387. -
Interactions between endothelial nitric oxide synthase and sex hormones in vascular protection in mice
Hodgin, J. B., Knowles, J. W., Kim, H. S., Smithies, O., & Maeda, N. (2002). Interactions between endothelial nitric oxide synthase and sex hormones in vascular protection in mice. JOURNAL OF CLINICAL INVESTIGATION, 109(4), 541–548. -
Ventricular expression of natriuretic peptides in Npr1(-/-) mice with cardiac hypertrophy and fibrosis
Ellmers, L. J., Knowles, J. W., Kim, H. S., Smithies, O., Maeda, N., & Cameron, V. A. (2002). Ventricular expression of natriuretic peptides in Npr1(-/-) mice with cardiac hypertrophy and fibrosis. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 283(2), H707–H714. -
Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects
Knowles, J. W., Erickson, L. M., Guy, V. K., Sigel, C. S., Wilder, J. C., & Maeda, N. (2003). Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects. HUMAN GENETICS, 112(1), 62–70. -
Increased atherosclerosis and smooth muscle cell hypertrophy in natriuretic peptide receptor A(-/-) apolipoprotein E-/- mice
Alexander, M. R., Knowles, J. W., Nishikimi, T., & Maeda, N. (2003). Increased atherosclerosis and smooth muscle cell hypertrophy in natriuretic peptide receptor A(-/-) apolipoprotein E-/- mice. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 23(6), 1077–1082. -
A case of complete heart block reverting to normal sinus rhythm after treatment for cardiac invasive Burkitt's lymphoma
Knowles, J. W., Elliott, A. B., & Brody, J. (2007). A case of complete heart block reverting to normal sinus rhythm after treatment for cardiac invasive Burkitt's lymphoma. ANNALS OF HEMATOLOGY, 86(9), 687–90. -
Genetic susceptibility to peripheral arterial disease: A dark corner in vascular biology
Knowles, J. W., Assimes, T. L., Li, J., Quertermous, T., & Cooke, J. P. (2007). Genetic susceptibility to peripheral arterial disease: A dark corner in vascular biology. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 27(10), 2068–78. -
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease
Assimes, T. L., Knowles, J. W., Priest, J. R., Basu, A., Borchert, A., Volcik, K. A., … Quertermous, T. (2008). A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease. ATHEROSCLEROSIS, 198(1), 136–44. -
Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction
Knowles, J. W., Wang, H., Itakura, H., Southwick, A., Myers, R. M., Iribarren, C., … Hlatky, M. A. (2007). Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction. AMERICAN HEART JOURNAL, 154(6), 1052–58. -
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
Assimes, T. L., Knowles, J. W., Priest, J. R., Basu, A., Volcik, K. A., Southwick, A., … Quertermous, T. (2008). Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease. HUMAN GENETICS, 123(4), 399–408. -
Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLRI) with CAD
Knowles, J. W., Assimes, T. L., Boerwinkle, E., Fortmann, S. P., Go, A., Grove, M. L., … Quertermous, T. (2008). Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLRI) with CAD. BMC MEDICAL GENETICS, 9. -
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
Assimes, T. L., Knowles, J. W., Basu, A., Iribarren, C., Southwick, A., Tang, H., … Quertermous, T. (2008). Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study. HUMAN MOLECULAR GENETICS, 17(15), 2320–28. -
Characterizing the admixed African ancestry of African Americans
Zakharia, F., Basu, A., Absher, D., Assimes, T. L., Go, A. S., Hlatky, M. A., … Tang, H. (2009). Characterizing the admixed African ancestry of African Americans. GENOME BIOLOGY, 10(12). -
Detailed Physiologic Characterization Reveals Diverse Mechanisms for Novel Genetic Loci Regulating Glucose and Insulin Metabolism in Humans
Ingelsson, E., Langenberg, C., Hivert, M.-F., Prokopenko, I., Lyssenko, V., Dupuis, J., … Florez, J. C. (2010). Detailed Physiologic Characterization Reveals Diverse Mechanisms for Novel Genetic Loci Regulating Glucose and Insulin Metabolism in Humans. DIABETES, 59(5), 1266–1275. -
Genome-wide meta-analyses identify multiple loci associated with smoking behavior
Furberg, H., Kim, Y., Dackor, J., Boerwinkle, E., Franceschini, N., Ardissino, D., … Sullivan, P. F. (2010). Genome-wide meta-analyses identify multiple loci associated with smoking behavior. NATURE GENETICS, 42(5), 441–U134. -
Clinical assessment incorporating a personal genome
Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., … Altman, R. B. (2010). Clinical assessment incorporating a personal genome. LANCET, 375(9725), 1525–35. -
Pharmacogenetics of Heart Failure: Evidence, Opportunities, and Challenges for Cardiovascular Pharmacogenomics
Wheeler, M. T., Ho, M., Knowles, J. W., Pavlovic, A., & Ashley, E. A. (2008). Pharmacogenetics of Heart Failure: Evidence, Opportunities, and Challenges for Cardiovascular Pharmacogenomics. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 1(1), 25–36. -
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Allen, H. L., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., … Hirschhorn, J. N. (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. NATURE, 467(7317), 832–38. -
Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
Assimes, T. L., Holm, H., Kathiresan, S., Reilly, M. P., Thorleifsson, G., Voight, B. F., … Quertermous, T. (2010). Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 56(19), 1552–63. -
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Speliotes, E. K., Willer, C. J., Berndt, S. I., Monda, K. L., Thorleifsson, G., Jackson, A. U., … Loos, R. J. F. (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. NATURE GENETICS, 42(11), 937–U53. -
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies
Reilly, M. P., Li, M., He, J., Ferguson, J. F., Stylianou, I. M., Mehta, N. N., … Rader, D. J. (2011). Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. LANCET, 377(9763), 383–92. -
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Schunkert, H., Koenig, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., … Samani, N. J. (2011). Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. NATURE GENETICS, 43(4), 333–U153. -
A Bivariate Genome-Wide Approach to Metabolic Syndrome STAMPEED Consortium
Kraja, A. T., Vaidya, D., Pankow, J. S., Goodarzi, M. O., Assimes, T. L., Kullo, I. J., … Borecki, I. B. (2011). A Bivariate Genome-Wide Approach to Metabolic Syndrome STAMPEED Consortium. DIABETES, 60(4), 1329–39. -
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Dewey, F. E., Chen, R., Cordero, S. P., Ormond, K. E., Caleshu, C., Karczewski, K. J., … Ashley, E. A. (2011). Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence. PLOS GENETICS, 7(9). -
The Evolution and Refinement of Traditional Risk Factors for Cardiovascular Disease
deGoma, E. M., Knowles, J. W., Angeli, F., Budoff, M. J., & Rader, D. J. (2012). The Evolution and Refinement of Traditional Risk Factors for Cardiovascular Disease. CARDIOLOGY IN REVIEW, 20(3), 118–129. -
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies
Sarwar, N., Butterworth, A. S., Freitag, D. F., Gregson, J., Willeit, P., Gorman, D. N., … Danesh, J. (2012). Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. LANCET, 379(9822), 1205–13. -
Use and overuse of left ventriculography
Witteles, R. M., Knowles, J. W., Perez, M., Morris, W. M., Spettell, C. M., Brennan, T. A., & Heidenreich, P. A. (2012). Use and overuse of left ventriculography. AMERICAN HEART JOURNAL, 163(4), 617-? -
Randomized Trial of Personal Genomics for Preventive Cardiology Design and Challenges
Knowles, J. W., Assimes, T. L., Kiernan, M., Pavlovic, A., Goldstein, B. A., Yank, V., … Ioannidis, J. P. A. (2012). Randomized Trial of Personal Genomics for Preventive Cardiology Design and Challenges. CIRCULATION-CARDIOVASCULAR GENETICS, 5(3), 368–76. -
Exploring Predisposition and Treatment Response-the Promise of Genomics
Pan, S., & Knowles, J. W. (2012). Exploring Predisposition and Treatment Response-the Promise of Genomics. PROGRESS IN CARDIOVASCULAR DISEASES, 55(1), 56–63. -
Measurement of insulin-mediated glucose uptake: direct comparison of the modified insulin suppression test and the euglycemic, hyperinsulinemic clamp.
Knowles, J. W., Assimes, T. L., Tsao, P. S., Natali, A., Mari, A., Quertermous, T., … Abbasi, F. (2013). Measurement of insulin-mediated glucose uptake: direct comparison of the modified insulin suppression test and the euglycemic, hyperinsulinemic clamp. Metabolism, 62(4), 548–53. -
Large-scale association analysis identifies new risk loci for coronary artery disease.
Deloukas, P., Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., Thompson, J. R., … Samani, N. J. (2013). Large-scale association analysis identifies new risk loci for coronary artery disease. Nature Genetics, 45(1), 25–33. -
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
Xie, W., Wood, A. R., Lyssenko, V., Weedon, M. N., Knowles, J. W., Alkayyali, S., … Walker, M. (2013). Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes, 62(6), 2141–2150. -
Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity.
Liang, P., Lan, F., Lee, A. S., Gong, T., Sanchez-Freire, V., Wang, Y., … Wu, J. C. (2013). Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity. Circulation, 127(16), 1677–91. -
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Den Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., … Loos, R. J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621–631. -
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
Coram, M. A., Duan, Q., Hoffmann, T. J., Thornton, T., Knowles, J. W., Johnson, N. A., … Tang, H. (2013). Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. American Journal of Human Genetics, 92(6), 904–16. -
Role of international registries in enhancing the care of familial hypercholesterolaemia.
Hammond, E., Watts, G. F., Rubinstein, Y., Farid, W., Livingston, M., Knowles, J. W., … Dawkins, H. J. (2013). Role of international registries in enhancing the care of familial hypercholesterolaemia. International Journal of Evidence-Based Healthcare, 11(2), 134–9. -
Low salt intake down-regulates the guanylin signaling pathway in rat distal colon
Li, Z. P., Knowles, J. W., Goyeau, D., Prabhakar, S., Short, D. B., Perkins, A. G., & Goy, M. F. (1996). Low salt intake down-regulates the guanylin signaling pathway in rat distal colon. GASTROENTEROLOGY, 111(6), 1714–1721. -
Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
Butterworth, A. S., Braund, P. S., Farrall, M., Hardwick, R. J., Saleheen, D., Peden, J. F., … Samani, N. J. (2011). Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease. PLOS GENETICS, 7(9). -
OVERUSE OF LEFT VENTRICULOGRAPHY
Witteles, R., Knowles, J. W., Perez, M., Morris, W. H., Spettell, C. M., Brennan, T. A., & Heidenreich, P. A. (2011). OVERUSE OF LEFT VENTRICULOGRAPHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 57(14), E1289–E1289. -
Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.
Yaghootkar, H., Lamina, C., Scott, R. A., Dastani, Z., Hivert, M.-F., Warren, L. L., … Frayling, T. M. (2013). Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes. Diabetes, 62(10), 3589–3598. -
Genetic Predisposition to Higher Blood Pressure Increases Coronary Artery Disease Risk
Lieb, W., Jansen, H., Loley, C., Pencina, M. J., Nelson, C. P., Newton-Cheh, C., … Schunkert, H. (2013). Genetic Predisposition to Higher Blood Pressure Increases Coronary Artery Disease Risk. HYPERTENSION, 61(5), 995-? -
Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
Coram, M. A., Duan, Q., Hoffmann, T. J., Thornton, T., Knowles, J. W., Johnson, N. A., … Tang, H. (2013). Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations. AMERICAN JOURNAL OF HUMAN GENETICS, 92(6), 904–16. -
Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.
Dimas, A. S., Lagou, V., Barker, A., Knowles, J. W., Mägi, R., Hivert, M.-F., … Prokopenko, I. (2014). Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity. Diabetes, 63(6), 2158–71. -
Trans-ethnic fine mapping identifies a novel independent locus at the 3 ' end of CDKAL1 and novel variants of several susceptibility loci for type 2 diabetes in a Han Chinese population
Kuo, J. Z., Sheu, W. H.-H., Assimes, T. L., Hung, Y.-J., Absher, D., Chiu, Y.-F., … Chen, Y.-D. I. (2013). Trans-ethnic fine mapping identifies a novel independent locus at the 3 ' end of CDKAL1 and novel variants of several susceptibility loci for type 2 diabetes in a Han Chinese population. DIABETOLOGIA, 56(12), 2619–28. -
Prevalence and clinical correlates of right ventricular dysfunction in patients with hypertrophic cardiomyopathy.
Finocchiaro, G., Knowles, J. W., Pavlovic, A., Perez, M., Magavern, E., Sinagra, G., … Ashley, E. A. (2014). Prevalence and clinical correlates of right ventricular dysfunction in patients with hypertrophic cardiomyopathy. American Journal of Cardiology, 113(2), 361–67. -
Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement.
Finocchiaro, G., Murphy, D., Pavlovic, A., Haddad, F., Shiran, H., Sinagra, G., … Knowles, J. W. (2014). Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement. Echocardiography (Mount Kisco, N.Y.), 31(3), E80–4. -
Variation in Use of Left Ventriculography in the Veterans Affairs Health Care System
Heidenreich, P. A., Lin, S., Knowles, J. W., Perez, M., Maddox, T. M., Ho, M. P., … Witteles, R. M. (2013). Variation in Use of Left Ventriculography in the Veterans Affairs Health Care System. CIRCULATION-CARDIOVASCULAR QUALITY AND OUTCOMES, 6(6), 687–93. -
Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.
O'Brien, E. C., Roe, M. T., Fraulo, E. S., Peterson, E. D., Ballantyne, C. M., Genest, J., … Knowles, J. W. (2014). Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. American Heart Journal, 167(3), 342–49 e17. -
Latent obstruction and left atrial size are predictors of clinical deterioration leading to septal reduction in hypertrophic cardiomyopathy.
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Schnittger, I., Knowles, J. W., … Ashley, E. (2014). Latent obstruction and left atrial size are predictors of clinical deterioration leading to septal reduction in hypertrophic cardiomyopathy. Journal of Cardiac Failure, 20(4), 236–43. -
How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience.
Finocchiaro, G., Haddad, F., Pavlovic, A., Magavern, E., Sinagra, G., Knowles, J. W., … Ashley, E. A. (2014). How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience. BMJ Open, 4(6). -
The shared allelic architecture of adiponectin levels and coronary artery disease
Dastani, Z., Johnson, T., Kronenberg, F., Nelson, C. P., Assimes, T. L., Maerz, W., & Richards, J. B. (2013). The shared allelic architecture of adiponectin levels and coronary artery disease. ATHEROSCLEROSIS, 229(1), 145–48. -
Large-scale association analysis identifies new risk loci for coronary artery disease
Deloukas, P., Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., Thompson, J. R., … Samani, N. J. (2013). Large-scale association analysis identifies new risk loci for coronary artery disease. NATURE GENETICS, 45(1), 25–U52. -
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Den Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., … Loos, R. J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621–31. -
Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement.
Finocchiaro, G., Murphy, D., Pavlovic, A., Haddad, F., Shiran, H., Sinagra, G., … Knowles, J. W. (2014). Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement. Echocardiography (Mount Kisco, N.Y.), 31(3), E80–4. -
Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity.
Liang, P., Lan, F., Lee, A. S., Gong, T., Sanchez-Freire, V., Wang, Y., … Wu, J. C. (2013). Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity. Circulation, 127(16), 1677–1691. -
Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.
O'Brien, E. C., Roe, M. T., Fraulo, E. S., Peterson, E. D., Ballantyne, C. M., Genest, J., … Knowles, J. W. (2014). Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. American Heart Journal, 167(3), 342–49 e17. -
Re: "Temporal relationship between uric acid concentration and risk of diabetes in a community-based study population".
Knowles, J. W., & Reaven, G. (2014). Re: "Temporal relationship between uric acid concentration and risk of diabetes in a community-based study population". American Journal of Epidemiology, 179(9), 1147–48. -
Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example.
Goldstein, B. A., Knowles, J. W., Salfati, E., Ioannidis, J. P. A., & Assimes, T. L. (2014). Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example. Frontiers in Genetics, 5, 254-? -
Genetic Evidence for a Normal-Weight "Metabolically Obese" Phenotype Linking Insulin Resistance, Hypertension, Coronary Artery Disease, and Type 2 Diabetes
Yaghootkar, H., Scott, R. A., White, C. C., Zhang, W., Speliotes, E., Munroe, P. B., … Frayling, T. M. (2014). Genetic Evidence for a Normal-Weight "Metabolically Obese" Phenotype Linking Insulin Resistance, Hypertension, Coronary Artery Disease, and Type 2 Diabetes. DIABETES, 63(12), 4369–77. -
Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene
Caron, K. M. I., James, L. R., Kim, H. S., Knowles, J., Uhlir, R., Mao, L., … Smithies, O. (2004). Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 101(9), 3106–3111. -
Cardiopulmonary responses and prognosis in hypertrophic cardiomyopathy: a potential role for comprehensive noninvasive hemodynamic assessment.
Finocchiaro, G., Haddad, F., Knowles, J. W., Caleshu, C., Pavlovic, A., Homburger, J., … Ashley, E. A. (2015). Cardiopulmonary responses and prognosis in hypertrophic cardiomyopathy: a potential role for comprehensive noninvasive hemodynamic assessment. JACC. Heart Failure, 3(5), 408–18. -
Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene
Knowles, J. W., Xie, W., Zhang, Z., Chennemsetty, I., Assimes, T. L., Paananen, J., … Quertermous, T. (2015). Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. JOURNAL OF CLINICAL INVESTIGATION, 125(4), 1739–51. -
Genetically Determined Height and Coronary Artery Disease
Nelson, C. P., Hamby, S. E., Saleheen, D., Hopewell, J. C., Zeng, L., Assimes, T. L., … Samani, N. J. (2015). Genetically Determined Height and Coronary Artery Disease. NEW ENGLAND JOURNAL OF MEDICINE, 372(17), 1608–18. -
PCSK9 Inhibition: Current Concepts and Lessons from Human Genetics
Rodriguez, F., & Knowles, J. W. (2015). PCSK9 Inhibition: Current Concepts and Lessons from Human Genetics. CURRENT ATHEROSCLEROSIS REPORTS, 17(3). -
Systematic Comparison of Digital Electrocardiograms From Healthy Athletes and Patients With Hypertrophic Cardiomyopathy.
Bent, R. E., Wheeler, M. T., Hadley, D., Knowles, J. W., Pavlovic, A., Finocchiaro, G., … Perez, M. V. (2015). Systematic Comparison of Digital Electrocardiograms From Healthy Athletes and Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 65(22), 2462–63. -
Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy
Finocchiaro, G., Kobayashi, Y., Magavern, E., Zhou, J. Q., Ashley, E., Sinagra, G., … Tremmel, J. A. (2015). Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy. JOURNAL OF CARDIAC FAILURE, 21(5), 419–25. -
Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes
Fall, T., Xie, W., Poon, W., Yaghootkar, H., Maegi, R., Knowles, J. W., … Ingelsson, E. (2015). Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes. DIABETES, 64(7), 2676–84. -
Corrigendum: Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example.
Goldstein, B. A., Knowles, J. W., Salfati, E., Ioannidis, J. P. A., & Assimes, T. L. (2015). Corrigendum: Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example. Frontiers in Genetics, 6, 231-? -
Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification, and Misinterpretation Versus Facts
Knowles, J. W., Stone, N. J., & Ballantyne, C. M. (2015). Familial Hypercholesterolemia and the 2013 American College of Cardiology/American Heart Association Guidelines: Myths, Oversimplification, and Misinterpretation Versus Facts. AMERICAN JOURNAL OF CARDIOLOGY, 116(3), 481–84. -
Genetic studies of body mass index yield new insights for obesity biology.
Locke, A. E., Kahali, B., Berndt, S. I., Justice, A. E., Pers, T. H., Day, F. R., … Speliotes, E. K. (2015). Genetic studies of body mass index yield new insights for obesity biology. Nature, 518(7538), 197–206. -
New genetic loci link adipose and insulin biology to body fat distribution.
Shungin, D., Winkler, T. W., Croteau-Chonka, D. C., Ferreira, T., Locke, A. E., Mägi, R., … Mohlke, K. L. (2015). New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518(7538), 187–96. -
How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience.
Finocchiaro, G., Haddad, F., Pavlovic, A., Magavern, E., Sinagra, G., Knowles, J. W., … Ashley, E. A. (2014). How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience. BMJ Open, 4(6). -
Hyperuricaemia: the unintended consequence of insulin resistance/compensatory hyperinsulinaemia. Philanthropy gone awry.
Knowles, J. W., & Reaven, G. (2014). Hyperuricaemia: the unintended consequence of insulin resistance/compensatory hyperinsulinaemia. Philanthropy gone awry. Journal of Internal Medicine, 276(2), 196–98. -
Cardiometabolic Effects of Glucagon-Like Peptide-1 Agonists.
Sarraju, A., Kim, S. H., & Knowles, J. W. (2016). Cardiometabolic Effects of Glucagon-Like Peptide-1 Agonists. Current Atherosclerosis Reports, 18(2), 7-? -
Maternal Midpregnancy Glucose Levels and Risk of Congenital Heart Disease in Offspring
Priest, J. R., Yang, W., Reaven, G., Knowles, J. W., & Shaw, G. M. (2015). Maternal Midpregnancy Glucose Levels and Risk of Congenital Heart Disease in Offspring. JAMA PEDIATRICS, 169(12), 1112–16. -
Impact of Septal Reduction on Left Atrial Size and Diastole in Hypertrophic Cardiomyopathy
Finocchiaro, G., Haddad, F., Kobayashi, Y., Lee, D., Pavlovic, A., Schnittger, I., … Ashley, E. (2016). Impact of Septal Reduction on Left Atrial Size and Diastole in Hypertrophic Cardiomyopathy. ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES, 33(5), 686–94. -
Human induced pluripotent stem cell-derived cardiomyocytes recapitulate the predilection of breast cancer patients to doxorubicin-induced cardiotoxicity
Burridge, P. W., Li, Y. F., Matsa, E., Wu, H., Ong, S.-G., Sharma, A., … Wu, J. C. (2016). Human induced pluripotent stem cell-derived cardiomyocytes recapitulate the predilection of breast cancer patients to doxorubicin-induced cardiotoxicity. NATURE MEDICINE, 22(5), 547–56. -
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States Data From the CASCADE-FH Registry
DeGoma, E. M., Ahmad, Z. S., O'Brien, E. C., Kindt, I., Shrader, P., Newman, C. B., … Knowles, J. W. (2016). Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States Data From the CASCADE-FH Registry. CIRCULATION-CARDIOVASCULAR GENETICS, 9(3), 240-? -
Novel Therapies for Familial Hypercholesterolemia.
Parizo, J., Sarraju, A., & Knowles, J. W. (2016). Novel Therapies for Familial Hypercholesterolemia. Current Treatment Options in Cardiovascular Medicine, 18(11), 64-? -
Hypertriglyceridemia: A simple approach to identify insulin resistance and enhanced cardio-metabolic risk in patients with prediabetes.
Abbasi, F., Kohli, P., Reaven, G. M., & Knowles, J. W. (2016). Hypertriglyceridemia: A simple approach to identify insulin resistance and enhanced cardio-metabolic risk in patients with prediabetes. Diabetes Research and Clinical Practice, 120, 156–61. -
Association Between Intensity of Statin Therapy and Mortality in Patients With Atherosclerotic Cardiovascular Disease.
Rodriguez, F., Maron, D. J., Knowles, J. W., Virani, S. S., Lin, S., & Heidenreich, P. A. (2017). Association Between Intensity of Statin Therapy and Mortality in Patients With Atherosclerotic Cardiovascular Disease. JAMA Cardiology, 2(1), 47–54. -
Use of high-intensity statins for patients with atherosclerotic cardiovascular disease in the Veterans Affairs Health System: Practice impact of the new cholesterol guidelines
Rodriguez, F., Lin, S., Maron, D. J., Knowles, J. W., Virani, S. S., & Heidenreich, P. A. (2016). Use of high-intensity statins for patients with atherosclerotic cardiovascular disease in the Veterans Affairs Health System: Practice impact of the new cholesterol guidelines. AMERICAN HEART JOURNAL, 182, 97–102. -
Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example
Goldstein, B. A., Knowles, J. W., Salfati, E., Ioannidis, J. P. A., & Assimes, T. L. (2014). Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example. FRONTIERS IN GENETICS, 5. -
Nat1 Deficiency Is Associated with Mitochondrial Dysfunction and Exercise Intolerance in Mice
Chennamsetty, I., Coronado, M., Contrepois, K., Keller, M. P., Carcamo-Orive, I., Sandin, J., … Knowles, J. W. (2016). Nat1 Deficiency Is Associated with Mitochondrial Dysfunction and Exercise Intolerance in Mice. CELL REPORTS, 17(2), 527–40. -
US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry
Ahmad, Z. S., Andersen, R. L., Andersen, L. H., O'Brien, E. C., Kindt, I., Shrader, P., … Knowles, J. W. (2016). US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. JOURNAL OF CLINICAL LIPIDOLOGY, 10(5), 1223–29. -
Metabolic Markers to Predict Incident Diabetes Mellitus in Statin-Treated Patients (from the Treating to New Targets and the Stroke Prevention by Aggressive Reduction in Cholesterol Levels Trials).
Kohli, P., Knowles, J. W., Sarraju, A., Waters, D. D., & Reaven, G. (2016). Metabolic Markers to Predict Incident Diabetes Mellitus in Statin-Treated Patients (from the Treating to New Targets and the Stroke Prevention by Aggressive Reduction in Cholesterol Levels Trials). American Journal of Cardiology, 118(9), 1275–81. -
Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity.
Carcamo-Orive, I., Hoffman, G. E., Cundiff, P., Beckmann, N. D., D'Souza, S. L., Knowles, J. W., … Lemischka, I. (2016). Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity. Cell Stem Cell. -
The role of registries and genetic databases in familial hypercholesterolemia.
Kindt, I., Mata, P., & Knowles, J. W. (2017). The role of registries and genetic databases in familial hypercholesterolemia. Current Opinion in Lipidology, 28(2), 152–60. -
Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity
Carcamo-Orive, I., Hoffman, G. E., Cundiff, P., Beckmann, N. D., D'Souza, S. L., Knowles, J. W., … Lemischka, I. (2017). Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity. CELL STEM CELL, 20(4), 518-? -
Leveraging Human Genetics to Understand the Relation of LDL Cholesterol with Type 2 Diabetes.
Ingelsson, E., & Knowles, J. W. (2017). Leveraging Human Genetics to Understand the Relation of LDL Cholesterol with Type 2 Diabetes. Clinical Chemistry. -
Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study.
Knowles, J. W., Zarafshar, S., Pavlovic, A., Goldstein, B. A., Tsai, S., Li, J., … Assimes, T. L. (2017). Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. Frontiers in Cardiovascular Medicine, 4, 53. -
Is ACS in Young Patients a "Canary in the Coal Mine" for Familial Hypercholesterolemia?
Knowles, J. W., & Sarraju, A. (2017). Is ACS in Young Patients a "Canary in the Coal Mine" for Familial Hypercholesterolemia? Journal of the American College of Cardiology, 70(14), 1741–43. -
Enough Evidence, Time to Act!
Rodriguez, F., & Knowles, J. W. (2016). Enough Evidence, Time to Act! CIRCULATION, 134(1), 20–23. -
First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring.
Helle, E. I., Biegley, P., Knowles, J. W., Leader, J. B., Pendergrass, S., Yang, W., … Priest, J. R. (2018). First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring. The Journal of Pediatrics, 195, 275–78. -
Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia
Priest, J. R., & Knowles, J. W. (2016). Standards of Evidence and Mechanistic Inference in Autosomal Recessive Hypercholesterolemia. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 36(8), 1465–66. -
Reducing the burden of disease and death from familial hypercholesterolemia: A call to action
Knowles, J. W., O'Brien, E. C., Greendale, K., Wilemon, K., Genest, J., Sperling, L. S., … Khoury, M. J. (2014). Reducing the burden of disease and death from familial hypercholesterolemia: A call to action. AMERICAN HEART JOURNAL, 168(6), 807–11. -
RV remodeling in college athletes engaged in mixed strength and endurance training: do the current echocardiographic reference values apply?
Finocchiaro, G., Knowles, J. W., Perez, M., Schnittger, I., Magavern, E., Puryear, J., … Haddad, F. (2014). RV remodeling in college athletes engaged in mixed strength and endurance training: do the current echocardiographic reference values apply? EUROPEAN HEART JOURNAL, 35, 729–30. -
Exercise capacity in patients with hypertrophic cardiomyopathy: non-invasive hemodynamic responses to exercise and association with clinical and imaging variables
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Wong, M., Knowles, J. K., … Ashley, E. (2013). Exercise capacity in patients with hypertrophic cardiomyopathy: non-invasive hemodynamic responses to exercise and association with clinical and imaging variables. EUROPEAN HEART JOURNAL, 34, 532–33. -
PREDICTORS OF STATIN USE FOR PATIENTS WITH LDL CHOLESTEROL ABOVE 190MG/DL: INSIGHTS FROM THE VETERANS AFFAIRS HEALTH CARE SYSTEM
Rodriguez, F., Knowles, J., Maron, D., Virani, S., & Heidenreich, P. (2017). PREDICTORS OF STATIN USE FOR PATIENTS WITH LDL CHOLESTEROL ABOVE 190MG/DL: INSIGHTS FROM THE VETERANS AFFAIRS HEALTH CARE SYSTEM. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 69(11), 1693. -
Prognostic role of exercise echocardiography in patients with hypertrophic cardiomyopathy
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Magavern, E., Knowles, J. K., & Ashley, E. (2013). Prognostic role of exercise echocardiography in patients with hypertrophic cardiomyopathy. EUROPEAN HEART JOURNAL, 34, 167. -
Impact of latent obstruction on exercise tolerance in hypertrophic cardiomyopathy
Finocchiaro, G., Haddad, F., Knowles, J. W., Pavlovic, A., Sinagra, G., Magavern, E., … Ashley, E. A. (2014). Impact of latent obstruction on exercise tolerance in hypertrophic cardiomyopathy. EUROPEAN HEART JOURNAL, 35, 927. -
The Independent Predictive Value of Peak Oxygen Consumption, Left ventricular Strain and Atrial Remodelling in Patients With Dilated Cardiomyopathy
Boulate, D., Banerjee, D., Ariyama, M., Wheeler, M., Knowles, J. W., Kobayashi, Y., … Ashley, E. A. (2015). The Independent Predictive Value of Peak Oxygen Consumption, Left ventricular Strain and Atrial Remodelling in Patients With Dilated Cardiomyopathy. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 34(4), S186. -
Impact of Type 2 Diabetes Susceptibility Loci on Variation in Physiologic Glycaemic Traits in Non-Diabetic Individuals
Dimas, A. S., Gomes, V. I., Knowles, J., Maegi, R., Barker, A., Hivert, M.-F., … Prokopenko, I. (2012). Impact of Type 2 Diabetes Susceptibility Loci on Variation in Physiologic Glycaemic Traits in Non-Diabetic Individuals. CIRCULATION, 126(21). -
Induced Pluripotent Stem Cell-Derived Endothelial Cells in Insulin Resistance and Metabolic Syndrome.
Carcamo-Orive, I., Huang, N. F., Quertermous, T., & Knowles, J. W. (2017). Induced Pluripotent Stem Cell-Derived Endothelial Cells in Insulin Resistance and Metabolic Syndrome. Arteriosclerosis, Thrombosis, and Vascular Biology, 37(11), 2038–42. -
Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes.
Chen, A. S., Bent, R. E., Wheeler, M., Knowles, J. W., Haddad, F., Froelicher, V., … Perez, M. V. (2018). Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. Heart (British Cardiac Society). -
Cardiovascular disease: The rise of the genetic risk score
Knowles, J. W., & Ashley, E. A. (2018). Cardiovascular disease: The rise of the genetic risk score. PLOS MEDICINE, 15(3), e1002546. -
Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH (TM) patient registry
Amrock, S. M., Duell, P. B., Knickelbine, T., Martin, S. S., O'Brien, E. C., Watson, K. E., … Ahmad, Z. S. (2017). Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH (TM) patient registry. ATHEROSCLEROSIS, 267, 19–26. -
Short-Term Repeatability of Insulin Resistance Indexes in Older Adults: The Atherosclerosis Risk in Communities Study
Poon, A. K., Meyer, M. L., Reaven, G., Knowles, J. W., Selvin, E., Pankow, J. S., … Heiss, G. (2018). Short-Term Repeatability of Insulin Resistance Indexes in Older Adults: The Atherosclerosis Risk in Communities Study. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 103(6), 2175–81. -
ADAPTATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA
Iacocca, M. A., Chora, J., Carrie, A., Leigh, S. E., Tichy, L., DiStefano, M. T., … Bourbon, M. (2018). ADAPTATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA. ATHEROSCLEROSIS SUPPLEMENTS, 32, 51. -
Frequency of Statin Use in Patients With Low-Density Lipoprotein Cholesterol =190 mg/dl from the Veterans Affairs Health System.
Rodriguez, F., Knowles, J. W., Maron, D. J., Virani, S. S., & Heidenreich, P. A. (2018). Frequency of Statin Use in Patients With Low-Density Lipoprotein Cholesterol =190 mg/dl from the Veterans Affairs Health System. The American Journal of Cardiology. -
Clinical Genetic Testing for Familial Hypercholesterolemia
Sturm, A. C., Knowles, J. W., Gidding, S. S., Ahmad, Z. S., Ahmed, C. D., Ballantyne, C. M., … Rader, D. J. (2018). Clinical Genetic Testing for Familial Hypercholesterolemia. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 72(6), 662–80. -
Genome-wide scan for circulating vascular adhesion protein-1 levels: MACROD2 as a potential transcriptional regulator of adipogenesis
Chang, Y.-C., Hee, S.-W., Lee, W.-J., Li, H.-Y., Chang, T.-J., Lin, M.-W., … Chuang, L.-M. (2018). Genome-wide scan for circulating vascular adhesion protein-1 levels: MACROD2 as a potential transcriptional regulator of adipogenesis. JOURNAL OF DIABETES INVESTIGATION, 9(5), 1067–74. -
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Iacocca, M. A., Chora, J. R., Carrie, A., Freiberger, T., Leigh, S. E., Defesche, J. C., … Knowles, J. W. (2018). ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human Mutation, 39(11), 1631–40. -
Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke
Rao, A. S., Lindholm, D., Rivas, M. A., Knowles, J. W., Montgomery, S. B., & Ingelsson, E. (2018). Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 11(7), e002162. -
Safety and Efficacy of PCSK9 Inhibitors After Heart Transplantation.
Moayedi, Y., Kozuszko, S., Knowles, J. W., Chih, S., Oro, G., Lee, R., … Khush, K. K. (2019). Safety and Efficacy of PCSK9 Inhibitors After Heart Transplantation. The Canadian Journal of Cardiology, 35(1). -
Body composition and atrial fibrillation: a Mendelian randomization study.
Tikkanen, E., Gustafsson, S., Knowles, J. W., Perez, M., Burgess, S., & Ingelsson, E. (2019). Body composition and atrial fibrillation: a Mendelian randomization study. European Heart Journal. -
Association of Statin Adherence With Mortality in Patients With Atherosclerotic Cardiovascular Disease.
Rodriguez, F., Maron, D. J., Knowles, J. W., Virani, S. S., Lin, S., & Heidenreich, P. A. (2019). Association of Statin Adherence With Mortality in Patients With Atherosclerotic Cardiovascular Disease. JAMA Cardiology. -
Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia.
Sarraju, A., & Knowles, J. W. (2019). Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia. Frontiers in Cardiovascular Medicine, 6, 5. -
No evidence of a causal association of type 2 diabetes and glucose metabolism with atrial fibrillation.
Harati, H., Zanetti, D., Rao, A., Gustafsson, S., Perez, M., Ingelsson, E., & Knowles, J. W. (2019). No evidence of a causal association of type 2 diabetes and glucose metabolism with atrial fibrillation. Diabetologia. -
Personalized Medicine and Cardiovascular Disease: From Genome to Bedside
Pan, S., Dewey, F. E., Perez, M. V., Knowles, J. W., Chen, R., Butte, A. J., & Ashley, E. A. (2011). Personalized Medicine and Cardiovascular Disease: From Genome to Bedside. CURRENT CARDIOVASCULAR RISK REPORTS, 5(6), 542–51. -
Mendelian Randomization Studies Do Not Support a Causal Effect of Plasma Lipids on Insulin Sensitivity
Fall, T., Xie, W., Hao, K., Arnlov, J., Abbasi, F., Schadt, E. E., … Frayling, T. M. (2012). Mendelian Randomization Studies Do Not Support a Causal Effect of Plasma Lipids on Insulin Sensitivity. CIRCULATION. LIPPINCOTT WILLIAMS & WILKINS. -
Relationship between simple markers of insulin resistance and coronary artery calcification
Reaven, G. M., Knowles, J. W., Leonard, D., Barlow, C. E., Willis, B. L., Haskell, W. L., & Maron, D. J. (2017). Relationship between simple markers of insulin resistance and coronary artery calcification. JOURNAL OF CLINICAL LIPIDOLOGY, 11(4), 1007–12. -
Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing
Knowles, J. W., Rader, D. J., & Khoury, M. J. (2017). Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 318(4), 381–82. -
Access to Nonstatin Lipid-Lowering Therapies in Patients at High Risk of Atherosclerotic Cardiovascular Disease
Knowles, J. W., Howard, W. B., Karayan, L., Baum, S. J., Wilemon, K. A., Ballantyne, C. M., & Myers, K. D. (2017). Access to Nonstatin Lipid-Lowering Therapies in Patients at High Risk of Atherosclerotic Cardiovascular Disease. CIRCULATION, 135(22), 2204–6. -
Statins in Familial Hypercholesterolemia Translating Evidence to Action
Knowles, J. W. (2016). Statins in Familial Hypercholesterolemia Translating Evidence to Action. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 68(3), 261–64. -
Usual Blood Pressure and New-Onset Diabetes Risk
Knowles, J. W., & Reaven, G. (2016). Usual Blood Pressure and New-Onset Diabetes Risk. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 67(13), 1656–57. -
The Agenda for Familial Hypercholesterolemia A Scientific Statement From the American Heart Association
Gidding, S. S., Champagne, M. A., de Ferranti, S. D., Defesche, J., Ito, M. K., Knowles, J. W., … Wierzbicki, A. S. (2015). The Agenda for Familial Hypercholesterolemia A Scientific Statement From the American Heart Association. CIRCULATION, 132(22), 2167–92. -
Genetic Applications in Coronary Artery Disease
Pan, S., Kim, J. B., Mehta, N. N., & Knowles, J. W. (2015). Genetic Applications in Coronary Artery Disease. CARDIOVASCULAR GENETICS AND GENOMICS IN CLINICAL PRACTICE, 253–64. -
Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene
Knowles, J. W., Hao, K., Xie, W., Weedon, M. N., Zhang, Z., Paaanen, J., … Quertermous, T. (2013). Genetic and Functional Analyses Identify NAT2 as a Human Insulin Sensitivity Gene. CIRCULATION, 128(22). -
Polygenic risk scores in coronary artery disease.
Rao, A. S., & Knowles, J. W. (2019). Polygenic risk scores in coronary artery disease. Current Opinion in Cardiology. -
Impact of race/ethnicity on insulin resistance and hypertriglyceridaemia.
Raygor, V., Abbasi, F., Lazzeroni, L. C., Kim, S., Ingelsson, E., Reaven, G. M., & Knowles, J. W. (2019). Impact of race/ethnicity on insulin resistance and hypertriglyceridaemia. Diabetes & Vascular Disease Research, 16(2), 153–59. -
Trends in overall, cardiovascular and cancer-related mortality among individuals with diabetes reported on death certificates in the United States between 2007 and 2017.
Kim, D., Li, A. A., Cholankeril, G., Kim, S. H., Ingelsson, E., Knowles, J. W., … Ahmed, A. (2019). Trends in overall, cardiovascular and cancer-related mortality among individuals with diabetes reported on death certificates in the United States between 2007 and 2017. Diabetologia. -
Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes.
Yaghootkar, H., Scott, R. A., White, C. C., Zhang, W., Speliotes, E., Munroe, P. B., … Frayling, T. M. (2014). Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes. Diabetes, 63(12), 4369–77. -
Impact of race/ethnicity on insulin resistance and hypertriglyceridaemia
Raygor, V., Abbasi, F., Lazzeroni, L. C., Kim, S., Ingelsson, E., Reaven, G. M., & Knowles, J. W. (2019). Impact of race/ethnicity on insulin resistance and hypertriglyceridaemia. DIABETES & VASCULAR DISEASE RESEARCH, 16(2), 153–59. -
Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes
Chen, A. S., Bent, R. E., Wheeler, M., Knowles, J. W., Haddad, F., Froelicher, V., … Perez, M. V. (2018). Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. HEART, 104(22), 1871–77. -
Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome
Schwartz, G. G., Steg, P. G., Szarek, M., Bhatt, D. L., Bittner, V. A., Diaz, R., … Zeiher, A. M. (2018). Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome. NEW ENGLAND JOURNAL OF MEDICINE, 379(22), 2097–2107. -
Safety and Efficacy of PCSK9 Inhibitors After Heart Transplantation
Moayedi, Y., Kozuszko, S., Knowles, J. W., Chih, S., Oro, G., Lee, R., … Khush, K. K. (2019). Safety and Efficacy of PCSK9 Inhibitors After Heart Transplantation. CANADIAN JOURNAL OF CARDIOLOGY, 35(1). -
No evidence of a causal association of type 2 diabetes and glucose metabolism with atrial fibrillation
Harati, H., Zanetti, D., Rao, A., Gustafsson, S., Perez, M., Ingelsson, E., & Knowles, J. W. (2019). No evidence of a causal association of type 2 diabetes and glucose metabolism with atrial fibrillation. DIABETOLOGIA, 62(5), 800–804. -
Finding missed cases of familial hypercholesterolemia in health systems using machine learning
Banda, J. M., Sarraju, A., Abbasi, F., Parizo, J., Pariani, M., Ison, H., … Knowles, J. W. (2019). Finding missed cases of familial hypercholesterolemia in health systems using machine learning. NPJ DIGITAL MEDICINE, 2. -
Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia
Sarraju, A., & Knowles, J. W. (2019). Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia. FRONTIERS IN CARDIOVASCULAR MEDICINE, 6. -
Association of Statin Adherence With Mortality in Patients With Atherosclerotic Cardiovascular Disease
Rodriguez, F., Maron, D. J., Knowles, J. W., Virani, S. S., Lin, S., & Heidenreich, P. A. (2019). Association of Statin Adherence With Mortality in Patients With Atherosclerotic Cardiovascular Disease. JAMA CARDIOLOGY, 4(3), 206–13. -
Frequency of Statin Use in Patients With Low-Density Lipoprotein Cholesterol >= 190 mg/dl from the Veterans Affairs Health System
Rodriguez, F., Knowles, J. W., Maron, D. J., Virani, S. S., & Heidenreich, P. A. (2018). Frequency of Statin Use in Patients With Low-Density Lipoprotein Cholesterol >= 190 mg/dl from the Veterans Affairs Health System. AMERICAN JOURNAL OF CARDIOLOGY, 122(5), 756–61. -
Effects of alirocumab on types of myocardial infarction: insights from the ODYSSEY OUTCOMES trial.
White, H. D., Steg, P. G., Szarek, M., Bhatt, D. L., Bittner, V. A., Diaz, R., … Schwartz, G. G. (2019). Effects of alirocumab on types of myocardial infarction: insights from the ODYSSEY OUTCOMES trial. European Heart Journal. -
Effect of Alirocumab on Mortality After Acute Coronary Syndromes: An Analysis of the ODYSSEY OUTCOMES Randomized Clinical Trial.
Steg, P. G., Szarek, M., Bhatt, D. L., Bittner, V. A., Brégeault, M.-F. F., Dalby, A. J., … Schwartz, G. G. (2019). Effect of Alirocumab on Mortality After Acute Coronary Syndromes: An Analysis of the ODYSSEY OUTCOMES Randomized Clinical Trial. Circulation. -
Increasing Mortality Among Patients With Diabetes and Chronic Liver Disease From 2007 Through 2017.
Kim, D., Cholankeril, G., Kim, S. H., Abbasi, F., Knowles, J. W., & Ahmed, A. (2019). Increasing Mortality Among Patients With Diabetes and Chronic Liver Disease From 2007 Through 2017. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. -
Trends in overall, cardiovascular and cancer-related mortality among individuals with diabetes reported on death certificates in the United States between 2007 and 2017
Kim, D., Li, A. A., Cholankeril, G., Kim, S. H., Ingelsson, E., Knowles, J. W., … Ahmed, A. (2019). Trends in overall, cardiovascular and cancer-related mortality among individuals with diabetes reported on death certificates in the United States between 2007 and 2017. DIABETOLOGIA, 62(7), 1185–94. -
Effects of alirocumab on cardiovascular and metabolic outcomes after acute coronary syndrome in patients with or without diabetes: a prespecified analysis of the ODYSSEY OUTCOMES randomised controlled trial.
Ray, K. K., Colhoun, H. M., Szarek, M., Baccara-Dinet, M., Bhatt, D. L., Bittner, V. A., … Steg, P. G. (2019). Effects of alirocumab on cardiovascular and metabolic outcomes after acute coronary syndrome in patients with or without diabetes: a prespecified analysis of the ODYSSEY OUTCOMES randomised controlled trial. The Lancet. Diabetes & Endocrinology. -
Finding missed cases of familial hypercholesterolemia in health systems using machine learning.
Banda, J. M., Sarraju, A., Abbasi, F., Parizo, J., Pariani, M., Ison, H., … Knowles, J. W. (2019). Finding missed cases of familial hypercholesterolemia in health systems using machine learning. NPJ Digital Medicine, 2, 23. -
The role of insulin as a key regulator of seeding, proliferation, and mRNA transcription of human pluripotent stem cells.
Shahbazi, M., Cundiff, P., Zhou, W., Lee, P., Patel, A., D'Souza, S. L., … Knowles, J. W. (2019). The role of insulin as a key regulator of seeding, proliferation, and mRNA transcription of human pluripotent stem cells. Stem Cell Research & Therapy, 10(1), 228. -
Polygenic risk scores in coronary artery disease
Rao, A. S., & Knowles, J. W. (2019). Polygenic risk scores in coronary artery disease. CURRENT OPINION IN CARDIOLOGY, 34(4), 435–40. -
Effects of Alirocumab on Cardiovascular Events After Coronary Bypass Surgery.
Goodman, S. G., Aylward, P. E., Szarek, M., Chumburidze, V., Bhatt, D. L., Bittner, V. A., … Schwartz, G. G. (2019). Effects of Alirocumab on Cardiovascular Events After Coronary Bypass Surgery. Journal of the American College of Cardiology, 74(9), 1177–86. -
Alirocumab Reduces Total Nonfatal Cardiovascular and Fatal Events The ODYSSEY OUTCOMES Trial
Szarek, M., White, H. D., Schwartz, G. G., Alings, M., Bhatt, D. L., Bittner, V. A., … Mohamed, W. M. I. W. (2019). Alirocumab Reduces Total Nonfatal Cardiovascular and Fatal Events The ODYSSEY OUTCOMES Trial. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 73(4), 387–96. -
Risk Categorization Using New American College of Cardiology/American Heart Association Guidelines for Cholesterol Management and Its Relation to Alirocumab Treatment Following Acute Coronary Syndromes.
Roe, M. T., Li, Q. H., Bhatt, D. L., Bittner, V. A., Diaz, R., Goodman, S. G., … Schwartz, G. G. (2019). Risk Categorization Using New American College of Cardiology/American Heart Association Guidelines for Cholesterol Management and Its Relation to Alirocumab Treatment Following Acute Coronary Syndromes. Circulation. -
SPECIFICATION OF ACMG/AMP GUIDELINES FOR VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA
Chora, J. R., Iacocca, M. A., Carrie, A., Leigh, S. E., Tichy, L., Kurtz, C. L., … Bourbon, M. (2019). SPECIFICATION OF ACMG/AMP GUIDELINES FOR VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA. ATHEROSCLEROSIS, 287, E68. -
ClinVar database of global familial hypercholesterolemia-associated DNA variants
Iacocca, M. A., Chora, J. R., Carrie, A., Freiberger, T., Leigh, S. E., Defesche, J. C., … Knowles, J. W. (2018). ClinVar database of global familial hypercholesterolemia-associated DNA variants. HUMAN MUTATION, 39(11), 1631–40. -
Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry.
Duell, P. B., Gidding, S. S., Andersen, R. L., Knickelbine, T., Anderson, L., Gianos, E., … Knowles, J. W. (2019). Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry. Atherosclerosis, 289, 85–93. -
Alirocumab in Patients With Polyvascular Disease and Recent Acute Coronary Syndrome ODYSSEY OUTCOMES Trial
Jukema, J. W., Szarek, M., Zijlstra, L. E., de Silva, H. A., Bhatt, D. L., Bittner, V. A., … Steg, P. G. (2019). Alirocumab in Patients With Polyvascular Disease and Recent Acute Coronary Syndrome ODYSSEY OUTCOMES Trial. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 74(9), 1167–76. -
Body composition and atrial fibrillation: a Mendelian randomization study
Tikkanen, E., Gustafsson, S., Knowles, J. W., Perez, M., Burgess, S., & Ingelsson, E. (2019). Body composition and atrial fibrillation: a Mendelian randomization study. EUROPEAN HEART JOURNAL, 40(16), 1277-+. -
CRISPR-Cas9-mediated knockout of SPRY2 in human hepatocytes leads to increased glucose uptake and lipid droplet accumulation.
Cook, N. L., Pjanic, M., Emmerich, A. G., Rao, A. S., Hetty, S., Knowles, J. W., … Ingelsson, E. (2019). CRISPR-Cas9-mediated knockout of SPRY2 in human hepatocytes leads to increased glucose uptake and lipid droplet accumulation. BMC Endocrine Disorders, 19(1), 115. -
Cardiorespiratory Fitness, Body-Mass Index, and Markers of Insulin Resistance in Apparently Healthy Women and Men.
Clarke, S. L., Reaven, G. M., Leonard, D., Barlow, C. E., Haskell, W. L., Willis, B. L., … Maron, D. J. (2020). Cardiorespiratory Fitness, Body-Mass Index, and Markers of Insulin Resistance in Apparently Healthy Women and Men. The American Journal of Medicine. -
Effect of Alirocumab on Lipoprotein(a) and Cardiovascular Risk After AcuteCoronary Syndrome.
Bittner, V. A., Szarek, M., Aylward, P. E., Bhatt, D. L., Diaz, R., Edelberg, J. M., … Schwartz, G. G. (2020). Effect of Alirocumab on Lipoprotein(a) and Cardiovascular Risk After AcuteCoronary Syndrome. Journal of the American College of Cardiology, 75(2), 133–44. -
Association of insulin resistance, from mid-life to late-life, with aortic stiffness in late-life: the Atherosclerosis Risk in Communities Study.
Poon, A. K., Meyer, M. L., Tanaka, H., Selvin, E., Pankow, J., Zeng, D., … Heiss, G. (2020). Association of insulin resistance, from mid-life to late-life, with aortic stiffness in late-life: the Atherosclerosis Risk in Communities Study. Cardiovascular Diabetology, 19(1), 11. -
RNA Interference Targeting Apolipoprotein C-III Results in Deep and Prolonged Reductions in Plasma Triglycerides
Schwabe, C., Scott, R., Sullivan, D. R., Baker, J., Clifton, P., Hamilton, J., … Ballantyne, C. M. (2019). RNA Interference Targeting Apolipoprotein C-III Results in Deep and Prolonged Reductions in Plasma Triglycerides. CIRCULATION, 140(25), E987. -
RNA Interference Targeting Hepatic Angiopoietin-Like Protein 3 Results in Prolonged Reductions in Plasma Triglycerides and LDL-C in Human Subjects
Watts, G. F., Schwabe, C., Scott, R., Gladding, P., Sullivan, D. R., Baker, J., … Ballantyne, C. M. (2019). RNA Interference Targeting Hepatic Angiopoietin-Like Protein 3 Results in Prolonged Reductions in Plasma Triglycerides and LDL-C in Human Subjects. CIRCULATION, 140(25), E987–E988. -
Mitochondrial dysfunction, insulin resistance and potential genetic implications.
Sangwung, P., Petersen, K. F., Shulman, G. I., & Knowles, J. W. (2020). Mitochondrial dysfunction, insulin resistance and potential genetic implications. Endocrinology. -
FAM13A affects body fat distribution and adipocyte function.
Fathzadeh, M., Li, J., Rao, A., Cook, N., Chennamsetty, I., Seldin, M., … Knowles, J. W. (2020). FAM13A affects body fat distribution and adipocyte function. Nature Communications, 11(1), 1465. -
Delisting STAP1: The Rise and Fall of a Putative Hypercholesterolemia Gene.
Hegele, R. A., Knowles, J. W., & Horton, J. D. (2020). Delisting STAP1: The Rise and Fall of a Putative Hypercholesterolemia Gene. Arteriosclerosis, Thrombosis, and Vascular Biology, 40(4), 847–49. -
Identification of Genetic Regulatory Networks for Insulin Resistance in Multiple Populations of Diverse Ethnicities
Shu Le, Zhao Yuqi, Lusis, A. J., Hao Ke, Quertermous, T., Knowles, J. W., & Yang Xia. (2017). Identification of Genetic Regulatory Networks for Insulin Resistance in Multiple Populations of Diverse Ethnicities. CIRCULATION RESEARCH, 121. -
Gaps in Dyslipidemia Care Among Working-Aged Individuals With Employer-Sponsored Health Care.
Shiffman, D., Louie, J. Z., Devlin, J. J., Knowles, J. W., & McPhaul, M. J. (2020). Gaps in Dyslipidemia Care Among Working-Aged Individuals With Employer-Sponsored Health Care. Journal of the American Heart Association, e015807. -
Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data
Myers, K. D., Knowles, J. W., Staszak, D., Shapiro, M. D., Howard, W., Yadava, M., … Rader, D. J. (2019). Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data. LANCET DIGITAL HEALTH, 1(8), E393–E402. -
Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program.
Kanchan, K., Iyer, K., Yanek, L. R., Carcamo-Orive, I., Taub, M. A., Malley, C., … Mathias, R. A. (2020). Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. Stem Cell Research, 46, 101803. -
Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.
Jakubosky, D., Smith, E. N., D'Antonio, M., Jan Bonder, M., Young Greenwald, W. W., D'Antonio-Chronowska, A., … Frazer, K. A. (2020). Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats. Nature Communications, 11(1), 2928. -
Properties of structural variants and short tandem repeats associated with gene expression and complex traits.
Jakubosky, D., D'Antonio, M., Bonder, M. J., Smail, C., Donovan, M. K., Young Greenwald, W. W., … Frazer, K. A. (2020). Properties of structural variants and short tandem repeats associated with gene expression and complex traits. Nature Communications, 11(1), 2927. -
Homozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry
Cuchel, M., Knowles, J. W., Kindt, I., Shrader, P., Hudgins, L. C., Duell, P. B., … Gidding, S. S. (2018). Homozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. CIRCULATION, 138. -
Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care.
Balla, S., Ekpo, E. P., Wilemon, K. A., Knowles, J. W., & Rodriguez, F. (2020). Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care. Current Atherosclerosis Reports, 22(10), 60. -
Insulin Resistance and Mitochondrial Dysfunction Mediated by Nat1 Deficiency
Sangwung, P., Fathzadeh, M., & Knowles, J. (2020). Insulin Resistance and Mitochondrial Dysfunction Mediated by Nat1 Deficiency. DIABETES, 69. -
Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry.
de Ferranti, S. D., Shrader, P., Linton, M. R. F., Knowles, J. W., Hudgins, L. C., Benuck, I., … Neal, W. (2020). Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry. The Journal of Pediatrics. -
Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data.
Myers, K. D., Knowles, J. W., Staszak, D., Shapiro, M. D., Howard, W., Yadava, M., … Rader, D. J. (2019). Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data. The Lancet. Digital Health, 1(8), e393–e402. -
Predictive network modeling in human induced pluripotent stem cells identifies key driver genes for insulin responsiveness.
Carcamo-Orive, I., Henrion, M. Y., Zhu, K., Beckmann, N. D., Cundiff, P., Moein, S., … Chang, R. (2020). Predictive network modeling in human induced pluripotent stem cells identifies key driver genes for insulin responsiveness. PLoS Computational Biology, 16(12), e1008491. -
Expression of Glycolytic Enzymes in Induced Pluripotent Stem Cells, Derived Megakaryocytes, and Endothelial Cells
Chandra, A., Vaidya, D., Chang, R., Knowles, J., Carcamo-Oribe, I., Kammers, K., … Becker, L. (2020). Expression of Glycolytic Enzymes in Induced Pluripotent Stem Cells, Derived Megakaryocytes, and Endothelial Cells. CIRCULATION RESEARCH, 127. -
The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case.
Wand, H., Knowles, J. W., & Clarke, S. L. (2021). The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case. Current Opinion in Lipidology. -
RNAi inhibition of angiopoietin-like protein 3 (ANGPTL3) with ARO-ANG3 mimics the lipid and lipoprotein profile of familial combined hypolipidemia
Watts, G. F., Schwabe, C., Scott, R., Gladding, P., Sullivan, D., Baker, J., … Ballantyne, C. (2020). RNAi inhibition of angiopoietin-like protein 3 (ANGPTL3) with ARO-ANG3 mimics the lipid and lipoprotein profile of familial combined hypolipidemia. EUROPEAN HEART JOURNAL, 41, 3331. -
RNA interference targeting apolipoprotein C-III with ARO-APOC3 in healthy volunteers mimics lipid and lipoprotein findings seen in subjects with inherited apolipoprotein C-III deficiency
Schwabe, C., Scott, R., Sullivan, D., Baker, J., Clifton, P., Hamilton, J., … Ballantyne, C. (2020). RNA interference targeting apolipoprotein C-III with ARO-APOC3 in healthy volunteers mimics lipid and lipoprotein findings seen in subjects with inherited apolipoprotein C-III deficiency. EUROPEAN HEART JOURNAL, 41, 3330. -
Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries.
Weale, M. E., Riveros-Mckay, F., Selzam, S., Seth, P., Moore, R., Tarran, W. A., … Donnelly, P. (2021). Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries. The American Journal of Cardiology. -
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder, M. J., Smail, C., Gloudemans, M. J., Fresard, L., Jakubosky, D., D'Antonio, M., … Stegle, O. (2021). Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nature Genetics. -
RECOMMENDATIONS FOR LDLR VARIANT INTERPRETATION BY THE CLINGEN'S FAMILIAL HYPERCHOLESTEROLEMIA EXPERT PANEL
Chora, J., Iacocca, M., Tichy, L., Wand, H., Kurtz, L. C., Zimmermann, H., … Bourbon, M. (2021). RECOMMENDATIONS FOR LDLR VARIANT INTERPRETATION BY THE CLINGEN'S FAMILIAL HYPERCHOLESTEROLEMIA EXPERT PANEL. MEDICINE, 100(4). -
Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
Liu, L., Shenoy, S. P., Jahng, J. W., Liu, Y., Knowles, J. W., Zhuge, Y., & Wu, J. C. (2021). Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy. Stem Cell Research, 53, 102279. -
Diverse Racial/Ethnic Group Underreporting and Underrepresentation in High-Impact Cholesterol Treatment Trials.
Sarraju, A., Valencia, A., Knowles, J. W., Maron, D. J., & Rodriguez, F. (2021). Diverse Racial/Ethnic Group Underreporting and Underrepresentation in High-Impact Cholesterol Treatment Trials. Circulation, 143(24), 2409–2411. -
Genetics of Type 2 Diabetes: Opportunities for Precision Medicine: JACC Focus Seminar.
Kim, D. S., Gloyn, A. L., & Knowles, J. W. (2021). Genetics of Type 2 Diabetes: Opportunities for Precision Medicine: JACC Focus Seminar. Journal of the American College of Cardiology, 78(5), 496–512. -
Health disparities in cardiometabolic risk among Black and Hispanic youth in the United States.
Katz, S. F., Rodriguez, F., & Knowles, J. W. (2021). Health disparities in cardiometabolic risk among Black and Hispanic youth in the United States. American Journal of Preventive Cardiology, 6, 100175. -
Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis.
Jiang, Z., Zhao, M., Voilquin, L., Jung, Y., Aikio, M. A., Sahai, T., … Svensson, K. J. (2021). Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis. Cell Metabolism. -
Statins Are Associated With Increased Insulin Resistance and Secretion.
Abbasi, F., Lamendola, C., Harris, C. S., Harris, V., Tsai, M.-S., Tripathi, P., … Knowles, J. W. (2021). Statins Are Associated With Increased Insulin Resistance and Secretion. Arteriosclerosis, Thrombosis, and Vascular Biology, ATVBAHA121316159. -
Signaling defects associated with insulin resistance in non-diabetic and diabetic individuals and modification by sex.
Haider, N., Lebastchi, J., Jayavelu, A. K., Batista, T. M., Pan, H., Dreyfuss, J. M., … Kahn, C. R. (2021). Signaling defects associated with insulin resistance in non-diabetic and diabetic individuals and modification by sex. The Journal of Clinical Investigation. -
An integrated approach to identify environmental modulators of genetic risk factors for complex traits.
Balliu, B., Carcamo-Orive, I., Gloudemans, M. J., Nachun, D. C., Durrant, M. G., Gazal, S., … Montgomery, S. B. (2021). An integrated approach to identify environmental modulators of genetic risk factors for complex traits. American Journal of Human Genetics. -
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora, J. R., Iacocca, M. A., Tichy, L., Wand, H., Kurtz, C. L., Zimmermann, H., … Bourbon, M. (1800). The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Familial Hypercholesterolemia
Sarraju, A., & Knowles, J. W. (2019). Familial Hypercholesterolemia. GENETIC CAUSES OF CARDIAC DISEASE, 7, 185–198. -
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
Gorzynski, J. E., Goenka, S. D., Shafin, K., Jensen, T. D., Fisk, D. G., Grove, M. E., … Ashley, E. A. (2022). Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. The New England Journal of Medicine. -
Online Patient Education Materials Related to Lipoprotein(a): Readability Assessment.
Pearson, K., Ngo, S., Ekpo, E., Sarraju, A., Baird, G., Knowles, J., & Rodriguez, F. (1800). Online Patient Education Materials Related to Lipoprotein(a): Readability Assessment. Journal of Medical Internet Research, 24(1), e31284. -
Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure.
Clarke, S. L., Tcheandjieu, C., Hilliard, A. T., Lee, M., Lynch, J., Chang, K.-M. M., … Assimes, T. L. (2022). Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure. Circulation. Genomic and Precision Medicine, CIRCGEN121003501. -
SPECIFICATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA: ON BEHALF OF THE CLINGEN FH VARIANT CURATION EXPERT PANEL
Iacocca, M. A., Chora, J. R., Freiberger, T., Carrie, A., Sijbrands, E. J., Wand, H., … Bourbon, M. (2020). SPECIFICATION OF ACMG/AMP GUIDELINES FOR STANDARDIZED VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA: ON BEHALF OF THE CLINGEN FH VARIANT CURATION EXPERT PANEL. ATHEROSCLEROSIS. ELSEVIER IRELAND LTD. -
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022). A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine, 14(1), 23. -
Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD.
Schnurr, T. M., Katz, S. F., Justesen, J. M., O'Sullivan, J. W., Saliba-Gustafsson, P., Assimes, T. L., … Knowles, J. W. (2022). Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD. Hepatology Communications. -
Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes.
Gloudemans, M. J., Balliu, B., Nachun, D., Schnurr, T. M., Durrant, M. G., Ingelsson, E., … Carcamo-Orive, I. (2022). Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes. Genome Medicine, 14(1), 31. -
Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants.
Manhas, A., Jahng, J. W., Vera, C. D., Shenoy, S. P., Knowles, J. W., & Wu, J. C. (2022). Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants. Stem Cell Research, 61, 102774. -
Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes
Gloudemans, M. J., Balliu, B., Nachun, D., Durrant, M. G., Ingelsson, E., Wabitsch, M., … Carcamo-Orive, I. (2022). Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes. METABOLISM-CLINICAL AND EXPERIMENTAL. W B SAUNDERS CO-ELSEVIER INC. -
G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis
Bielczyk-Maczynska, E., Zhao, M., Zushin, P.-J. H., Schnurr, T. M., Kim, H.-J., Li, J., … Knowles, J. W. (2022). G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis. Nature Communications. -
Apolipoprotein B, Residual Cardiovascular Risk After Acute Coronary Syndrome, and Effects of Alirocumab.
Hagström, E., Steg, P. G., Szarek, M., Bhatt, D. L., Bittner, V. A., Danchin, N., … Schwartz, G. G. (2022). Apolipoprotein B, Residual Cardiovascular Risk After Acute Coronary Syndrome, and Effects of Alirocumab. Circulation, 101161CIRCULATIONAHA121057807. -
Creation of the American Heart Association Journals' Equity, Diversity, and Inclusion Editorial Board: The Next Step to Achieving the 2024 Impact Goal.
Lewis, E. F., Beaty, C., Boltze, J., Breathett, K., Clair, W. K., de Las Fuentes, L., … Schultz, J. (2022). Creation of the American Heart Association Journals' Equity, Diversity, and Inclusion Editorial Board: The Next Step to Achieving the 2024 Impact Goal. Circulation, 101161CIRCULATIONAHA122061450. -
Analysis of Insulin Resistance Among Children and Adolescents in Slovenia With Hypercholesterolemia After Treatment With Statins.
Groselj, U., Sikonja, J., Mlinaric, M., Kotnik, P., Battelino, T., & Knowles, J. W. (2022). Analysis of Insulin Resistance Among Children and Adolescents in Slovenia With Hypercholesterolemia After Treatment With Statins. JAMA Network Open, 5(9), e2231097. -
Chronic liver disease-related mortality in diabetes before and during the COVID-19 in the United States.
Kim, D., Alshuwaykh, O., Dennis, B. B., Cholankeril, G., Knowles, J. W., & Ahmed, A. (2022). Chronic liver disease-related mortality in diabetes before and during the COVID-19 in the United States. Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. -
STATIN THERAPY IS NOT ASSOCIATED WITH INSULIN RESISTANCE IN CHILDREN AND ADOLESCENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA
Groselj, U., Sikonja, J., Mlinaric, M., Kotnik, P., Battelino, T., & Knowles, J. W. (2022). STATIN THERAPY IS NOT ASSOCIATED WITH INSULIN RESISTANCE IN CHILDREN AND ADOLESCENTS WITH FAMILIAL HYPERCHOLESTEROLAEMIA. ATHEROSCLEROSIS. ELSEVIER IRELAND LTD. -
G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis.
Bielczyk-Maczynska, E., Zhao, M., Zushin, P.-J. H., Schnurr, T. M., Kim, H.-J. J., Li, J., … Knowles, J. W. (2022). G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis. Nature Communications, 13(1), 7408. -
The relationship between insulin resistance and ion mobility lipoprotein fractions.
Rowland, C. M., Abbasi, F., Shiffman, D., Knowles, J. W., & McPhaul, M. J. (2023). The relationship between insulin resistance and ion mobility lipoprotein fractions. American Journal of Preventive Cardiology, 13, 100457. -
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel, M., Lee, P. C., Hudgins, L. C., Duell, P. B., Ahmad, Z., Baum, S. J., … McGowan, M. P. (2023). Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry. Journal of the American Heart Association, e029175. -
Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts.
Zanetti, D., Stell, L., Gustafsson, S., Abbasi, F., Tsao, P. S., Knowles, J. W., … Assimes, T. L. (2023). Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts. Diabetologia. -
Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models.
Li, J., Jin, C., Gustafsson, S., Rao, A., Wabitsch, M., Park, C. Y., … Bielczyk-Maczynska, E. (2023). Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models. Scientific Data, 10(1), 387. -
Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models.
Li, J., Jin, C., Gustafsson, S., Rao, A., Wabitsch, M., Park, C. Y., … Knowles, J. W. (2023). Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models. BioRxiv : the Preprint Server for Biology. -
A single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes.
Bielczyk-Maczynska, E., Sharma, D., Blencowe, M., Saliba Gustafsson, P., Gloudemans, M. J., Yang, X., … Li, J. (2023). A single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes. American Journal of Physiology. Cell Physiology. -
RNA interference targeting ANGPTL3 for triglyceride and cholesterol lowering: phase 1 basket trial cohorts.
Watts, G. F., Schwabe, C., Scott, R., Gladding, P. A., Sullivan, D., Baker, J., … Ballantyne, C. M. (2023). RNA interference targeting ANGPTL3 for triglyceride and cholesterol lowering: phase 1 basket trial cohorts. Nature Medicine. -
Principles for Health Information Collection, Sharing, and Use: A Policy Statement From the American Heart Association
Spector-Bagdady, K., Armoundas, A. A., Arnaout, R., Hall, J. L., McSwain, B. Y., Knowles, J. W., … Chung, M. K. (2023). Principles for Health Information Collection, Sharing, and Use: A Policy Statement From the American Heart Association. CIRCULATION, 148(13), 1061–1069. -
ARO-ANG3, AN INVESTIGATIONAL RNAI THERAPEUTIC, DECREASES SERUM LDL-CHOLESTEROL, APOLIPOPROTEIN B, AND ANGIOPOIETIN-LIKE PROTEIN 3 IN PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLAEMIA
Raal, F., Bergeron, J., Watts, G., Gaudet, D., Sullivan, D., Turner, T., … Rosenson, R. (2023). ARO-ANG3, AN INVESTIGATIONAL RNAI THERAPEUTIC, DECREASES SERUM LDL-CHOLESTEROL, APOLIPOPROTEIN B, AND ANGIOPOIETIN-LIKE PROTEIN 3 IN PATIENTS WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLAEMIA. ATHEROSCLEROSIS. ELSEVIER IRELAND LTD. -
Lac-Phe mediates the anti-obesity effect of metformin.
Xiao, S., Li, V. L., Lyu, X., Chen, X., Wei, W., Abbasi, F., … Long, J. Z. (2023). Lac-Phe mediates the anti-obesity effect of metformin. BioRxiv : the Preprint Server for Biology. -
USPSTF Recommendation on Screening for Lipid Disorders in Children and Adolescents.
Wilemon, K., Knowles, J. W., & Baum, S. J. (2023). USPSTF Recommendation on Screening for Lipid Disorders in Children and Adolescents. JAMA, 330(20), 2024.
Clinical Trials
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.
Practice Locations
Preventive Cardiology Stanford, CA
Stanford, CAPreventive Cardiology
300 Pasteur Drive , 2nd Floor, Room A260
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Hypertrophic Cardiomyopathy Center Stanford, CA
Stanford, CAHypertrophic Cardiomyopathy Center
300 Pasteur Drive , 2nd Floor, Room A260
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Center for Inherited Cardiovascular Disease Stanford, CA
Stanford, CACenter for Inherited Cardiovascular Disease
300 Pasteur Drive, Heart Clinic 1, Clinic A21
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Center for Inherited Cardiovascular Disease at Stanford Stanford, CA
Stanford, CACenter for Inherited Cardiovascular Disease at Stanford
300 Pasteur Drive, Heart Clinic 1, Clinic A21
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Important Information about Our Organizations and Physician Affiliation
Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are each independent nonprofit organizations that are affiliated with but separate from each other and from Stanford University. The physicians who provide care at facilities operated by Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are faculty, foundation, or community physicians who are not employees, representatives, or agents of Stanford Health Care, Stanford Health Care Tri- Valley, or Stanford Medicine Partners. Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners do not exercise control over the care provided by such faculty, foundation, and community physicians and are not responsible for their actions.
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Referring Physicians
PHYSICIAN HELPLINE
Fax: 650-320-9443
Monday–Friday, 8 a.m.–5 p.m.
Stanford Health Care provides comprehensive services to refer and track patients, as well as the latest information and news for physicians and office staff. For help with all referral needs and questions, visit Referral Information.
You may also submit a web referral or complete a referral form and fax it to 650-320-9443 or email the Referral Center at ReferralCenter@stanfordhealthcare.org.

- Send referrals online
- Place radiology orders
- View referral status
- Access medical records