Joshua W. Knowles

5.0/5

Biography

I am a physician-scientist and the overall theme my research has been the genetic basis of cardiovascular disease across the continuum from Discovery to the development of Model Systems to the Translation of these findings to the clinic and most recently to the Public Health aspect of genetics. I completed his MD-PhD at UNC with Prof. Nobuyo Maeda and Nobel Laureate Oliver Smithies. I did Internal Medicine residency and Cardiology fellowship training at Stanford working with Dr. Tom Quertermous. Currently my Discovery and basic translational efforts center on understanding the genetic basis of insulin resistance using GWAS studies coupled with exploration in model systems including iPSCs and CRISPR screens. My clinical translational focus is on Familial Hypercholesterolemia (FH) and I am the volunteer Chief Research Advisor of the Family Heart Foundation (FHF) which is a patient-led organization dedicated to increasing awareness of FH, identifying and treating patients with FH and screening family members to prevent deleterious outcomes. I helped lead the FHF efforts to establish a national patient registry (CASCADE FH), apply for an ICD10 code for FH and using cutting-edge “big-data” approaches to identify previously undiagnosed FH patients in electronic medical records (FIND FH). I have published over 120 papers with research projects currently funded by the National Institutes of Health, the American Diabetes Association, the American Heart Association and the Doris Duke Charitable Foundation.

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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)

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Honors & Awards

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

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Memberships

Board Member, The Family Heart Foundation (2012 - Present)

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)

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Publications

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.
- Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
  Speliotes, E. K., Yerges-Armstrong, L. M., Wu, J., Hernaez, R., Kim, L. J., Palmer, C. D., … Borecki, I. B. (2011). Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLOS GENETICS, 7(3).
- 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.
- Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene.
  Knowles, J. W., Xie, W., Zhang, Z., Chennamsetty, I., Assimes, T. L., Paananen, J., … Quertermous, T. (2016). Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. Journal of Clinical Investigation, 126(1), 403-?
- 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.
- Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes
  Strawbridge, R. J., Dupuis, J., Prokopenko, I., Barker, A., Ahlqvist, E., Rybin, D., … Florez, J. C. (2011). Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes. DIABETES, 60(10), 2624–34.
- 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.
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
  Chambers, J. C., Zhang, W., Sehmi, J., Li, X., Wass, M. N., Van der Harst, P., … Kooner, J. S. (2011). Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. NATURE GENETICS, 43(11), 1131–38.
- 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.
- Multi-ethnic fine-mapping of 14 central adiposity loci
  Liu, C.-T., Buchkovich, M. L., Winkler, T. W., Heid, I. M., Borecki, I. B., Fox, C. S., … Cupples, L. A. (2014). Multi-ethnic fine-mapping of 14 central adiposity loci. HUMAN MOLECULAR GENETICS, 23(17), 4738–4744.
- 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.
- Impact of Virtual Interviewing on Cardiovascular Fellowship Applicant Diversity: Insights From 2 Academic Programs.
  Witting, C., Knowles, J. W., DeFaria Yeh, D., Beyene, T. J., Gummipundi, S. E., Heidenreich, P. A., & Yong, C. M. (2023). Impact of Virtual Interviewing on Cardiovascular Fellowship Applicant Diversity: Insights From 2 Academic Programs. Journal of the American Heart Association, e030255.
- Trends of Lipid Concentrations, Awareness, Evaluation, and Treatment in Severe Dyslipidemia in US Adults.
  Shetty, N. S., Gaonkar, M., Patel, N., Knowles, J. W., Natarajan, P., Arora, G., & Arora, P. (2024). Trends of Lipid Concentrations, Awareness, Evaluation, and Treatment in Severe Dyslipidemia in US Adults. Mayo Clinic Proceedings.
- Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity (vol 20, pg 518, 2017)
  Carcamo-Orive, I., Hoffman, G. E., Cundiff, P., Beckmann, N. D., D'Souza, S. L., Knowles, J. W., … Lemischka, I. (2022). Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity (vol 20, pg 518, 2017). CELL STEM CELL, 29(10), 1505.
- Lipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol
  Schwartz, G. G., Szarek, M., Bittner, V. A., Diaz, R., Goodman, S. G., Jukema, J. W., … Steg, P. G. (2021). Lipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 78(5), 421–433.
- Relation of Lipoprotein(a) Levels to Incident Type 2 Diabetes and Modification by Alirocumab Treatment
  Schwartz, G. G., Szarek, M., Bittner, V. A., Bhatt, D. L., Diaz, R., Goodman, S. G., … Steg, P. G. (2021). Relation of Lipoprotein(a) Levels to Incident Type 2 Diabetes and Modification by Alirocumab Treatment. DIABETES CARE, 44(5), 1219–1227.
- Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia
  Raal, F. J., Kallend, D., Ray, K. K., Turner, T., Koenig, W., Wright, R. S., … Kastelein, J. J. P. (2020). Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia. NEW ENGLAND JOURNAL OF MEDICINE, 382(16), 1520–1530.
- RNA Interference Therapy Targeting Apolipoprotein C-III in Hypertriglyceridemia.
  Gaudet, D., Clifton, P., Sullivan, D., Baker, J., Schwabe, C., Thackwray, S., … Ballantyne, C. M. (2023). RNA Interference Therapy Targeting Apolipoprotein C-III in Hypertriglyceridemia. NEJM Evidence, 2(12), EVIDoa2200325.
- Generation of two induced pluripotent stem cell lines from healthy patients of African American ancestry.
  Mullen, M. K., Kojic, A., Alamana, C., Canel, G., Lai, C., Knowles, J. W., & Wu, J. C. (2024). Generation of two induced pluripotent stem cell lines from healthy patients of African American ancestry. Stem Cell Research, 76, 103322.
- A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes.
  Saliba-Gustafsson, P., Justesen, J. M., Ranta, A., Sharma, D., Bielczyk-Maczynska, E., Li, J., … Knowles, J. W. (2024). A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes. MedRxiv : the Preprint Server for Health Sciences.
- Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program.
  Brunette, C. A., Yi, T., Danowski, M. E., Cardellino, M., Harrison, A., Assimes, T. L., … Vassy, J. L. (2024). Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program. JAMIA Open, 7(1), ooae020.
- Lac-Phe mediates the effects of metformin on food intake and body weight.
  Xiao, S., Li, V. L., Lyu, X., Chen, X., Wei, W., Abbasi, F., … Long, J. Z. (2024). Lac-Phe mediates the effects of metformin on food intake and body weight. Nature Metabolism.
- Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.
  Ison, H. E., Mowaswes, M., Durst, R., Leucker, T., Knowles, J. W., & Brown, E. E. (2024). Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels. Journal of Genetic Counseling.
- Chemerin in Participants with or without Insulin Resistance and Diabetes.
  Zhao, L., Zhou, J., Abbasi, F., Fathzadeh, M., Knowles, J. W., Leung, L. L., & Morser, J. (2024). Chemerin in Participants with or without Insulin Resistance and Diabetes. Biomedicines, 12(4).
- Design and Pilot Results from Million Veteran Program Return Of Actionable Genetic Results (MVP-ROAR) Study.
  Vassy, J. L., Brunette, C. A., Yi, T., Harrison, A., Cardellino, M. P., Assimes, T. L., … Danowski, M. E. (2024). Design and Pilot Results from Million Veteran Program Return Of Actionable Genetic Results (MVP-ROAR) Study. American Heart Journal.
- Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene.
  Gao, J., Li, J., Xu, L., Yan, C. D., Knowles, J. W., & Wu, J. C. (2024). Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene. Stem Cell Research, 78, 103463.
- Another Use for Polygenic Risk Scores: Improving Risk Prediction for Heterozygous Familial Hypercholesterolemia.
  Palmisano, B. T., & Knowles, J. W. (2023). Another Use for Polygenic Risk Scores: Improving Risk Prediction for Heterozygous Familial Hypercholesterolemia. JACC. Advances, 2(9), 100663.
- X chromosome dosage drives statin-induced dysglycemia and mitochondrial dysfunction.
  Zhang, P., Munier, J. J., Wiese, C. B., Vergnes, L., Link, J. C., Abbasi, F., … Reue, K. (2024). X chromosome dosage drives statin-induced dysglycemia and mitochondrial dysfunction. Nature Communications, 15(1), 5571.
- Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes.
  Yu, G. Z., Krentz, N. A., Bentley, L., Zhao, M., Paphiti, K., Sun, H., … Gloyn, A. L. (2024). Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes. BioRxiv : the Preprint Server for Biology.
- A functional genomic framework to elucidate novel causal metabolic dysfunction-associated fatty liver disease genes.
  Saliba-Gustafsson, P., Justesen, J. M., Ranta, A., Sharma, D., Bielczyk-Maczynska, E., Li, J., … Knowles, J. W. (2024). A functional genomic framework to elucidate novel causal metabolic dysfunction-associated fatty liver disease genes. Hepatology (Baltimore, Md.).
- One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy
  Kim, D. S., Chu, E. L., Keamy-Minor, E. E., Paranjpe, I. D., Tang, W. L., O'Sullivan, J. W., … Ashley, E. A. (2024). One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy. FRONTIERS IN CARDIOVASCULAR MEDICINE, 11.
- One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy.
  Kim, D. S., Chu, E. L., Keamy-Minor, E. E., Paranjpe, I. D., Tang, W. L., O'Sullivan, J. W., … Ashley, E. A. (2024). One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy. Frontiers in Cardiovascular Medicine, 11, 1429230.
- Hymecromone Promotes Longevity and Insulin Sensitivity in Mice.
  Nagy, N., Czepiel, K. S., Kaber, G., Stefanovski, D., Hargil, A., Pennetzdorfer, N., … Bollyky, P. L. (2024). Hymecromone Promotes Longevity and Insulin Sensitivity in Mice. Cells, 13(20).
- Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations.
  Kho, P. F., Wary, N., Zanetti, D., Abbasi, F., Knowles, J. W., Panyard, D. J., … Assimes, T. L. (2024). Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations. MedRxiv : the Preprint Server for Health Sciences.
- Label-Free Detection of Lipid Accumulation in Cells Using Magnetic Levitation.
  Moncal, K. K., Najmi, L. A., Gupta, R., Ramarao, M., Knowles, J. W., Park, C. Y., & Durmus, N. G. (2025). Label-Free Detection of Lipid Accumulation in Cells Using Magnetic Levitation. Advanced Biology, e2200142.
- Genetics of cardiometabolic disease progression.
  Justesen, J. M., Venkataraman, G., Tanigawa, Y., Li, R., Hastie, T., Tibshirani, R., … Rivas, M. A. (2025). Genetics of cardiometabolic disease progression. MedRxiv : the Preprint Server for Health Sciences.
- Primary Care Providers' Perspectives on Receiving Opportunistic Genomic Results from a National Study - the Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study.
  Johannsen, A. L., Danowski, M. E., Sitter, K. E., Preys, C. L., Gerety, H. L., Brunette, C. A., … Vassy, J. L. (2025). Primary Care Providers' Perspectives on Receiving Opportunistic Genomic Results from a National Study - the Million Veteran Program Return Of Actionable Results (MVP-ROAR) Study. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 101416.
- Many Journeys Originating at the Same Source to Arrive at Solutions to the Common Problem of High Lipoprotein(a).
  Luxama, J. W., & Knowles, J. W. (2025). Many Journeys Originating at the Same Source to Arrive at Solutions to the Common Problem of High Lipoprotein(a). Circulation. Genomic and Precision Medicine, e005126.
- Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations.
  Kho, P. F., Wary, N., Zanetti, D., Abbasi, F., Knowles, J. W., Panyard, D. J., … Assimes, T. L. (2025). Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations. Metabolism: Clinical and Experimental, 156263.

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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.

Open Trials Closed Trials

Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy

Specializing In

Practice Locations

Preventive Cardiology Palo Alto, CA

Palo Alto, CA

Preventive Cardiology

300 Pasteur Dr, Fl 2 Rm A260

Palo Alto , CA 94305

(650) 725-5909

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Hypertrophic Cardiomyopathy Center Palo Alto, CA

Palo Alto, CA

Hypertrophic Cardiomyopathy Center

300 Pasteur Dr, Fl 2 Rm A260

Palo Alto , CA 94305

(650) 736-7878

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Center for Inherited Cardiovascular Disease at Stanford Palo Alto, CA

Palo Alto, CA

Center for Inherited Cardiovascular Disease at Stanford

300 Pasteur Dr, Heart Clinic 1 Rm A21

Palo Alto , CA 94305

(650) 736-7878

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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.

Patient Ratings

(10 Ratings)

Overall Rating

5.0/5

View Ratings by Category

5.0/5

Friendliness

5.0/5

Explanations

5.0/5

Listens

5.0/5

Care provider's efforts to include you in decisions about your care

4.9/5

Recommended to others

0.0/5

Wait times

How Our Ratings Work

The Patients Ratings and comments are gathered from our Patient Satisfaction Survey and displayed in their entirety.

Patient Satisfaction Survey Disclaimer

Patient Reviews

(79 reviews)

Feel super fortunate to be a patient of yours. Thank you for everything.

Nov 2024

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Verified SHC Patient

He was thorough and explained everything really well for me. He answered every question I had and heard every concern I had. I really appreciated that.

Nov 2024

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Verified SHC Patient

Dr. Knowles is a great cardiologist. Thank you for having good patient care.

Aug 2024

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Verified SHC Patient

The video visit was great Doctor! Thank you!

Jul 2024

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Verified SHC Patient

Dr. Knowles' fund of knowledge is impressive. He is thoughtful and able to extrapolate care from known and studied conditions to conditions that are less well studied--where answers are not known. I truly appreciated the consultation.

Jul 2024

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Verified SHC Patient

First rate excellent doctor!

Jun 2024

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Verified SHC Patient

Awesome! Doctor. I really appreciate his bedside manner. Never have a problem w/having request sent to out for lab work. He's thorough and when I've had concerns about my health and reached out to his Team, he f/u promptly. Great Doctor, no concerns.

Jun 2024

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Verified SHC Patient

Always super knowledgeable and kind!

Jun 2024

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Verified SHC Patient

Dr. Knowles was outstanding - thoughtful, thorough, astute, compassionate, and informative. He was well-prepared and I appreciated his respectful, careful approach.

Mar 2024

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Verified SHC Patient

Thanks!

Mar 2024

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Verified SHC Patient

Pleased to have him as my cardiologist. He's knowledgeable and attentive.

Feb 2024

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Verified SHC Patient

very knowledgeable and articulate. Concise and to the point. Too bad I am moving to Florida and won't be able to continue with his advice and assistance.

Feb 2024

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Verified SHC Patient

Stanford Heart Clinic is so thorough.

Feb 2024

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Verified SHC Patient

Confidant and attentive doctor.

Dec 2023

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Verified SHC Patient

Great very knowledgable doctor -- been guided by Dr. Knowles for a long time by now

Nov 2023

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Verified SHC Patient

Dr Knowles explained everything clearly in detail. Answered all questions completely and fully covered all concerns and direction of ongoing treatment.

Nov 2023

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Verified SHC Patient

He is a very knowledgeable doctor

Nov 2023

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Verified SHC Patient

He is an awesome Dr. and always attentive to my needs.

Oct 2023

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Verified SHC Patient

Very good Dr. He explained different things in words that I could understand. I appreciated that. Thank you.

Jul 2023

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Verified SHC Patient

Without a doubt the finest Doctor. Heâ€™s kind, knowledgeable, and respects the patients.

Jul 2023

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Verified SHC Patient

Dr. Knowles is one of the best doctors I have worked with in my life for four reasons: He is extremely knowledgeable. He answered every question I had authoritatively and went "above and beyond" to explain things He is very proactive. He goes way beyond the basics to tell me everything I can do to optimize my health He is on top of most all of the new trials, drugs, therapies people are looking at to help fight heart disease. I feel like he genuinely cares about me. I could sense his kindness. He even shared his cell phone, Dr. Knowles is an extraordinary doctor and Stanford should be very proud of this guy

Jun 2023

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Verified SHC Patient

He did a great job listening and communicating.

Jun 2023

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Verified SHC Patient

Great bedside manner, attentive, definitely new what my lab results were and how we would need to proceed further.

May 2023

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Verified SHC Patient

efficient, thoughtful

Feb 2023

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Verified SHC Patient

Dr. Knowles was familiar with my history and recent test results. He was attentive to any questions and comments from me. I am very pleased to have him as my cardiologist.

Feb 2023

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Verified SHC Patient

I would just like to thank him. He is extremely knowledgeable and provided some great insights and possible improvements to my existing therapy.

Jan 2023

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Verified SHC Patient

Great communicator and listener.

Jan 2023

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Verified SHC Patient

Excellent. very knowledgeable, very concise, very focused, very patient-centric.

Nov 2022

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Verified SHC Patient

Dr. Knowles is knowledgeable was generous with his time.

Nov 2022

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Verified SHC Patient

Thorough first visit with full discussion of action to take.

Sep 2022

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Verified SHC Patient

Joshua Knowles did a very good job explaining everything to me and took the time to make sure all of my questions were answered.

Aug 2022

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Verified SHC Patient

Dr Knowles took a lot of time to go over all of my concerns, explaining everything in detail, and we came up with a plan of action that I agree with.

Jul 2022

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Verified SHC Patient

Doctor Knowles, is a professional in all the activities that he performs during his work. He is a person with a true vocation to help patients. In my case, I am very grateful to him because he has followed my case since 2010, and although I have had other cardiologists, he has always kept informed about my health. And when he has found out that I need a referral to another doctor or to another department, he has always been there. He is a person who knows how to listen, and when he has to say something that sometimes I would not like to hear, he always tells me even if I do not like it, and in the end I end up thanking him for everything he says because I know it is for my health.

Jul 2022

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Verified SHC Patient

Very thorough and helpful. Easy to understand; did not use unfamiliar terms.

May 2022

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Verified SHC Patient

He is thoughtful, thorough, and an expert in his field.

May 2022

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Verified SHC Patient

Great doctor. Glad I have access. He gathers all the info and distills to the most important points.

Apr 2022

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Verified SHC Patient

Credible and professional

Apr 2022

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Verified SHC Patient

He is exceptional

Feb 2022

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Verified SHC Patient

Great manner and approach to people

Feb 2022

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Verified SHC Patient

Seemed very knowledgeable in his field

Feb 2022

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Verified SHC Patient

Outstanding, knowledgeable, thoughtful. Listened well and collaboratively worked out a plan for next steps.

Jan 2022

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Verified SHC Patient

Excellent expert clinician!

Dec 2021

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Verified SHC Patient

Thorough and thoughtful physician, who explained everything clearly.

Nov 2021

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Verified SHC Patient

Great doctor and I'm happy to have him take care of my heart health. Looking forward to meeting him in person on my next appointment.

Nov 2021

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Verified SHC Patient

Dr Joshua Knowles was extremely helpful with all the information he put forth and gave so much clarity regarding the reality of my condition. I am very grateful for the visit

Nov 2021

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Verified SHC Patient

Dr. Knowles was quite informative, educated me on my condition and I felt very supported and willing to work toward our common goal, my positive healthcare.

Oct 2021

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Verified SHC Patient

He is great! Good bedside manners. Answers all questions. Doesnâ€™t rush.

Oct 2021

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Verified SHC Patient

Dr. Knowles was thorough, efficient, and kind during our visit.

Oct 2021

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Verified SHC Patient

Dr. Knowles is extremely knowledgeable, articulate, empathetic, and actually cares about his patients. Thatâ€™s not always the case in other offices.

Oct 2021

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Verified SHC Patient

Dr. Knowles went out of his way (again) to help me. I really appreciate it.

Sep 2021

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Verified SHC Patient

Excellent doctor who took the time to really explain options and ideas. Will be recommending him to other friends and family.

Sep 2021

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Verified SHC Patient

Nice demeanor, knowledgeable. Good advise.

Aug 2021

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Verified SHC Patient

I enjoyed my visit with Dr. Knowles and his medical student Dr. Jenkins. I look forward to an in-person visit if the need arises.

Jul 2021

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Verified SHC Patient

he did a fantastic job educating me on my issues and discussing treatment options. really helpful

Jun 2021

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Verified SHC Patient

I look forward to my next visit. very happy to see Dr. Knowles. I am grateful for his input.

Jun 2021

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Verified SHC Patient

Great to speak with!

May 2021

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Verified SHC Patient

I felt that he was extremely knowledgeable and I trust his evaluations.

May 2021

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Verified SHC Patient

Extremely knowledgeable, clear, and helpful.

May 2021

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Verified SHC Patient

I really appreciate the time Dr. Knowles took to explain everything to me in clear detail. I found him to be very kind and informative. I'm grateful for his consultation. Thank you!

Apr 2021

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Verified SHC Patient

Dr. Knowles is the best.

May 2020

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Verified SHC Patient

The doctors spent a lot of time with me, explanations good, I was very happy about the visit & doctors.

Oct 2019

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Verified SHC Patient

Dr. Schroeder recommended Dr. Knowles. I was sorry the follow up had to be postponed.

May 2018

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Verified SHC Patient

Exceeded expectations, very thorough, knowledgeable (I am a physician).

Apr 2018

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Verified SHC Patient

Told friends "Stanford is the best!

Aug 2017

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Verified SHC Patient

Very good.

Jun 2017

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Verified SHC Patient

Dr. Knowles spent quite a lot of time on my history and in explaining what I needed to do to improve and extend health, and motivating me to be more proactive in doing it.

May 2017

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Verified SHC Patient

Everyone was very caring & nice.

May 2017

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Verified SHC Patient

Doctor was great and took the time to go over details with me.

Apr 2017

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Verified SHC Patient

Very thoughtful and informed discussion of treatment options.

Mar 2017

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Verified SHC Patient

Good experience.

Aug 2016

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Verified SHC Patient

Dr. Knowles and Ms. Lamendola both are consummate professionals.

Jul 2016

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Verified SHC Patient

Dr. Knowles was outstanding!

Jul 2016

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Verified SHC Patient

Dr. Knowles is friendly, thorough, kind, professional, and shares his expertise in a clear and genuine manner.

May 2016

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Verified SHC Patient

Great doctor.

Dec 2015

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Verified SHC Patient

I cannot tell you how thankful I am that I am able to have such good drs. & PA's. Its a comfort.

Apr 2015

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Verified SHC Patient

I felt like I didn't fit his "study" protocol so he wasn't interested in me anymore.

Jan 2015

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Verified SHC Patient

He was very informative.

Dec 2014

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Verified SHC Patient

My doc didn't give info on my meds b/c he didn't prescribe them.

Dec 2013

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Verified SHC Patient

He was amazing!

Dec 2013

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Verified SHC Patient

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Referring Physicians

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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.

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Joshua W. Knowles

Cardiologist

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Biography

Professional Summary

Education & Certifications

Honors & Awards

Memberships

Administrative Appointments

Publications

Clinical Trials

Specializing In

Practice Locations

Preventive Cardiology Palo Alto, CA

Preventive Cardiology

Hypertrophic Cardiomyopathy Center Palo Alto, CA

Hypertrophic Cardiomyopathy Center

Center for Inherited Cardiovascular Disease at Stanford Palo Alto, CA

Center for Inherited Cardiovascular Disease at Stanford

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(79 reviews)

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WELCOME BACK

Joshua W. Knowles

Cardiologist

Get In Touch

Biography

Professional Summary

Education & Certifications

Honors & Awards

Memberships

Administrative Appointments

Publications

Clinical Trials

Specializing In

Practice Locations

Preventive Cardiology Palo Alto, CA

Preventive Cardiology

Hypertrophic Cardiomyopathy Center Palo Alto, CA

Hypertrophic Cardiomyopathy Center

Center for Inherited Cardiovascular Disease at Stanford Palo Alto, CA

Center for Inherited Cardiovascular Disease at Stanford

Important Information about Our Organizations and Physician Affiliation

Patient Ratings

How Our Ratings Work

Patient Reviews

(79 reviews)

Referring Physicians

PHYSICIAN HELPLINE