Joshua Knowles MD PhD

PubMed

• Successful Rituximab Treatment of GPIHBP1 Autoantibody-Associated Hypertriglyceridemia.
  Tasmeen Hussain, Audra Horomanski, Sneha Jain, Cindy Lamendola, Fahim Abbasi
  JACC. Case Reports. 2025-08-13
• Cardiologists' Perceptions of Cardiogenetic Testing and Management.
  W H Wilson Tang, Quan M Bui, Allison L Cirino, Lisa Dellefave-Castillo, Brendan J Floyd
  JACC. Advances. 2025-08-01
• Cross-sectional, interventional, and causal investigation of insulin sensitivity using plasma proteomics in diverse populations.
  Pik Fang Kho, Neil Wary, Daniela Zanetti, Fahim Abbasi, Joshua W Knowles
  Metabolism. 2025-08-01

Journal Articles

• The Present and Future JACC Scientific Expert Panel Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel  
  Joshua W Knowles, Seth J Baum, MacRae F Linton, Nathan O Stitziel, Daniel J Rader, Samuel S Gidding, Ray E Hershberger, Zahid S Ahmad, Christie M Ballantyne, ScienceDirect
• Statins in Familial Hypercholesterolemia  
  Joshua Knowles, MD, ScienceDirect
• Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.  
  Schunkert H, [70 authors], Knowles JW, [93 authors], Erdmann J; CARDIoGRAM Consortium, Samani NJ, Nat Genet 2011 Mar;43(4):333-338
• Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary athero-sclerosis:...  
  Reilly MP, Li M, [22 authors], Knowles J, [25 authors]; †Wellcome Trust Case Control Consortium, Knouff CW, Waterworth DM, Walker MC, Martinelli N, Olivieri O, Girelli..., Lancet 2011 Jan;377(9763):383-392
• Genome-wide association analysis identifies variants associated with nonalcoholic faty liver disease that have distinct effects on metabolic traits.  
  Speliotes EK, [24 authors]; NASH CRN [87 authors]; GIANT Consortium, [149 authors], Knowles JW, [183 authors]; MAGIC Investigators [273 authors]; GOLD Consortium [24 a..., PLoS Genet 2011 Mar;7(3): e1001324
• A bivariate genome-wide approach to metabolic syndrome: STAMPEED Consortium.  
  Kraja AT, Vaidya D, Pankow JS, Goodarzi MO, Assimes TL, Kullo IJ, Sovio U, Mathias R, Sun YV, Franceschini N, Absher D, Li G, Zhang Q, Feitosa MF, Glazer NL, Haritunia..., Diabetes 2011 Apr;60(4):1329-1339
• Large-scale gene-centric analysis identifies novel variants for coronary artery disease.  
  IBC 50K CAD Consortium; CARDIoGRAM Consortium. Schunkert H, [68 authors], Knowles JW, [91 authors], Samani NJ, PLoS Genet 2011 Sep;7(9):e1002260
• Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.  
  Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong..., PLoS Genet 2011 Sep; 7(9):e1002280
• Overuse of left ventriculography.  
  Witteles RM, Knowles JW, Perez M, Morris WM, Spettell CM, Brennan TA, Heidenreich PA, Am Heart J 2012 Apr;163(4): 617-623
• Randomized trial of personal genomics for preventive cardiology: design and challenges.  
  Knowles JW, Assimes TA, Kiernan M, Pavlovic A, Goldstein BA, Yank V, McConnell MV, Absher D, Bustamante C, Ashley EA, Ioannidis JP, Circ Cardiovasc Genet 2012 June;5(3):368-376
• Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.  
  Xie W, Wood AR, Lyssenko V, Weedon MN, Knowles JW, Alkayyali S, Assimes TL, Quertermous T, Abbasi F, Paananen J, Häring H, Hansen T, Pedersen O, Smith U, Laakso M, Dek..., Diabetes 2013 Feb 1. PMID: 23378610
• Mendelian randomization studies do not support a causal effect of plasma lipids on insulin sensitivity.  
  Xie W, Fall T, Hao K, Ärnlöv J, Abbasi F, Schadt EE, Boran G, Hansen T, Greenawalt D, Nolan JJ, Pedersen O, Häring H, Ferrannini E, Syvänen AC, Quertermous T, Smith U,..., Diabetes
• Large-scale association analysis identifies new risk loci for coronary artery disease.  
  Assimes TL, [45 authors]; DIAGRAM Consortium; CARDIOGENICS Consortium, [16 authors], Knowles JW, DiabetesNat Genet 2013 Jan;45(1):25-33
• Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in human populations.  
  Coram MA, Duan Q, Hoffmann TJ, Thornton T, Knowles JW, Johnson NA, Ochs-Balcom HM, Donlon TA, Martin LW, Eaton CB, Robinson JG, Risch NJ, Zhu X, Kooperberg C, Li Y, Re..., ASHG
• Variation in use of left ventriculography in the Veterans Affairs Health Care System.  
  Heidenreich PA, Lin S, Knowles JW, Perez M, Maddox TM, Ho MP, Rumsfeld JS, Sahay A, Massie BM, Tsai TT, Witteles RM, Circ Cardiovasc Qual Outcomes
• Genetic modifiers of atherosclerosis in mice.  
  Knowles JW, Maeda N, Arterioscler Thromb Vasc Biol 2000;20(11):2336-2345
• A case of complete heart block reverting to normal sinus rhythm after treatment for cardiac invasive Burkitt's lymphoma.  
  Knowles JW, Elliott AB, Brody J, Ann Hematol 2007; 86(9):687-690
• Genetic susceptibility to peripheral arterial disease: a dark corner in vascular biology.  
  Knowles JW, Assimes TL, Li J, Quertermous T, Cooke JP, Arterioscler Thromb Vasc Biol 2007;27(10):2068-2078
• Pharmacogenetics of heart failure: evidence, opportunities, and challenges for cardiovascular pharmacogenomics.  
  Wheeler MT, Ho M, Knowles JW, Pavlovic A, Ashley EA, J Cardiovasc Trans Res 2008;1(1):25-36
• The evolution of traditional risk factors.  
  deGoma EM, Knowles JW, Angeli F, Budoff MJ, Rader DJ, Cardiol Rev 2012 May;20(3):118-129
• Exploring predisposition and treatment response--the promise of genomics.  
  Pan S, Knowles JW, Prog Cardiovasc Dis 2012 Jul-Aug;55(1):56-63
• Dyslipidemia and hypertension: twin killers in renal vascular disease.  
  Knowles JW, Maeda N, Am J Kidney Dis 2001;37(6):1322-1323
• Genetic Variants Associated with Diabetes Related Circulating Metabolite Levels and Their Role in Type 2 Diabetes and Insulin Sensitivity.  
  Xie W, Weedon M, Wood A, GENESIS Consortium, Frayling TM, Gall W, Walker M, American Diabetes Association 72nd Scientific Sessions, Philadelphia, PA
• Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD.  
  Knowles JW, Assimes TL, Boerwinkle E, Fortmann SP, Go A, Grove ML, Hlatky M, Iribarren C, Li J, Myers R, Risch N, Sidney S, Southwick A, Volcik KA, Quertermous T, BMC Med Genet
• Enhanced atherosclerosis and kidney dysfunction in eNOS(-/-)Apoe(-/-) mice are ameliorated by enalapril treatment.  
  Knowles JW, Reddick RL, Jennette JC, Shesely EG, Smithies O, Maeda N, J Clin Invest 2000;105(4):451-458
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Books/Book Chapters

• Cardiovascular Pharmacogenetics. 
  Chapter: Genes that Modify Susceptibility to Atherosclerosis: Targets for Drug Action 
  Page 79 - 106Knowles JWEditors: M. Wilkins.Springer-Verlag, Heidelberg, Germany

Abstracts/Posters

• Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
  Heid IM, (67 authors) Knowles JW, Kraft P, (> 120 authors), North KE, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL, Wichmann HE, Th..., Nat Genet 2011 Oct 27;43(11):1164. doi: 10.1038/ng1111-1164a
• Expression of a cGMP-stimulated phosphodiesterase in the rat gastrointestinal-tract, as detected by in-situ hybridization and functional assay.
  Knowles J, Li Z, Goy MF, Gastroenterology 1994;106(4 Suppl A):A1032
• Endothelial nitric oxide synthase is not required for atheroreception by 17 beta-estradiol in ApoE -/- mice.
  Hodgin JB, Knowles JW, Smithies O, Maeda N, Circulation 2000 Oct; 102(18 Suppl II):II-318
• Failure to replicate an association of a single nucleotide polymorphism in the oxidized LDL receptor gene (Orl1) with CAD.
  Knowles JW, Assimes T, Priest JR, Tabor H, Southwick A, Volcik K, Boerwinkle E, Grove ML, Wang J, Tabibiazar R, Sidney S, Risch N, Iribarren C, Go A, Myers R, Hlatky M..., AHA Western States Affiliate -Young Investigators Forum, San Francisco, CA
• Genome-wide association study for early coronary disease and related phenotypes.
  Absher D, Assimes TL, Basu A, Fortmann SP, Go AS, Hlatky MA, Iribarren C, Knowles JW, Li J, Risch N, Sidney S, Southwick A, Tang H, Myers RM, Quertermous T, Cold Spring Harbor Laboratory Clinical Cardiovascular Genomics Meeting
• Elucidating gene pathways underlying insulin resistance using integrated approaches of genome-wide association study, expression QTLs and pathway analysis.
  Hao K, Yang X, Knowles JW, Assimes TL, Cordell HJ, Xie W, Weedon MN, Zhong H, Frayling TM, Suver C, WangI-M, Greenawalt DM, Kemp DM, Abbasi F, Reaven G, Ho L-T, Chuang..., American Society of Human Genetics (ASHG). Montreal
• Overuse of left ventriculography.
  Witteles R, Knowles JW, Perez M, Morris WH, Spettell CM, Brennan TA, Heidenreich PA, J Am Coll Cardiol 2011 Apr;57(14):E1289
• Measurement of Insulin-mediated Glucose Uptake: Direct Comparison of the Modified Insulin Suppression Test and the Euglycemic, Hyperinsulinemic Clamp.
  Knowles JW, Assimes TL, Tsao PS, Natali S, Mari A, Quertermous T, Reaven G, Abbasi F, International Congress on Insulin Resistance. Los Angeles, CA
• Elucidating Gene Pathways and Key Regulators Underlying Insulin Resistance via Integration of Genome-Wide Association Data, Expression QTLs, and Pathway and Network An...
  Knowles JW, Hao K, Assimes TL, Zhu J, Zhang B, Cordell HJ, Xie W, Weedon MN, Zhong H, Frayling TM, Suver C, Wang IM, Greenawalt DM, Kemp DM, Abbasi F, Reaven G, Ho LT,..., Lung and Blood Diseases, Bethesda, MD
• Mendelian randomisation studies do not support a causal effect of plasma lipids on insulin sensitivity.
  Fall T, Xie W, Hao K, Ärnlöv J, Abbasi F, Schadt EE, Boran G, Hansen T, Greenawalt D, Nolan JJ, Pedersen O, Häring H, Ferrannini E, Syvänen AC, Quertermous T, Smith U,..., AHA Scientific Sessions, Los Angeles, CA
• Pilot randomized trial of personalized genomics in preventive cardiology.
  Knowles JW, Assimes TL, Kiernan M, Pavlovic A, Goldstein BA, Yank V, McConnell MV, Absher D, Bustamante C, Ashley EA, Ioannidis JPA, AHA Scientific Sessions, Los Angeles, CA
• Impact of variation in type 2 diabetes susceptibility loci on physiologic glycaemic traits in non-diabetic individuals.
  Dimas AS, Lagou V, Knowles JW, Mägi R, Barker A, Hivert MF, Benazzo A, Rybin D, Assimes T, Quertermous T, Walker M, Barroso I, Langenberg C, Dupuis J, Watanabe RM, Flo..., AHA Scientific Sessions, Los Angeles, CA
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Lectures

• Panel Discussion Moderator 
  2019 ACC Scientific Session & Expo, New Orleans - 3/17/2019
• Core Curriculum: Prevention: Primer in CVD 
  2019 ACC Scientific Session & Expo, New Orleans - 3/17/2019
• Atherogenesis. 
  Stanford, CA, 2011
• Approach to the Statin Intolerant Patient. 
  Stanford Cardiology Grand Rounds, Stanford Stanford, CA
• Approach to the Statin Intolerant Patient. 
  Stanford, CA
• Focus on FH 
  Multiple Locations, 2012
• Alcohol ablation or myectomy: Which for Whom. 
  Monterey, CA
• A randomized trial of personal genomics for preventive cardiology: design and challenges. 
  American Heart Association National Meeting Los Angeles, CA
• Cardiovascular Genetics. 
  Multiple Locations, 2012, 2013
• Randomized trial of personal genomics in preventive cardiology. 
  Stanford Cardiology Grand Rounds Stanford, CA
• Impacts of Genomics on Disease Treatment. 
  Stanford, CA
• The Heart. 
  Stanford School of Medicine, Lecture for 1st year medical students Stanford, CA
• Health and Wellness for the Busy Executive. 
  Stanford Executive Program, Stanford Graduate School of Business Stanford, CA
• Enhanced atherosclerosis and kidney dysfunction in eNOS-/-Apoe-/- mice are ameliorated by enalapril treatment. 
  National MD/PhD Student Conference. Aspen, CO
• A pilot randomized trial of personal genomics for preventive cardiology. 
  Stanford Medical School lecture (MED223) Stanford, CA
• Personalized medicine and genomics. 
  Stanford School of Medicine, Introductory Epidemiology Course (GENE210) Stanford, CA
• Genome wide association study for determinants of insulin sensitivity. 
  Multiple Locations, 2010
• Genetics of Cardiovascular Disease. 
  Multiple Locations, 2010, 2011, 2012
• The Athlete’s Heart. 
  Senior Games of California Stanford, CA
• Genome Wide Association Studies of Cardiovascular Disease. 
  Stanford Biostatistics Seminar Stanford, CA
• Genome Wide Association Study for Early Onset Coronary Disease and Related Phenotypes. 
  Cold Spring Harbor Meeting on Clinical Cardiovascular Genetics Cold Spring Harbor, NY
• Natriuretic peptide receptor A knockout mice have an enhanced response to hypertrophic stimuli in the heart. 
  Snowbird, UY
• Enhanced atherosclerosis and kidney dysfunction in eNOS-/-Apoe-/- mice are ameliorated by enalapril treatment. 
  National MD/PhD Student Conference Aspen, CO
• Natriuretic peptide receptor A knockout mice have an enhanced response to hypertrophic stimuli in the heart. 
  Snowbird, UT
• Enhanced atherosclerosis and kidney dysfunction in eNOS-/-Apoe-/- mice are ameliorated by enalapril treatment. 
  Arteriosclerosis, Thrombosis and Vascular Biology (ATVB) Meeting. Denver, CO
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