JoshuaKnowlesMDPhD

PubMed

• Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in famil...
  Charles A Brunette, Thomas Yi, Morgan E Danowski, Mark Cardellino, Alicia Harrison, Themistocles L Assimes, Joshua W Knowles, Kurt D Christensen, Amy C Sturm, Yan V Su...> ;JAMIA Open. 2024 Apr 1
• Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.
  Hannah E Ison, Mohammad Mowaswes, Ronen Durst, Emily E Brown, Thorsten Leucker, Joshua W Knowles> ;Journal of Genetic Counseling. 2024 Mar 28
• Generation of two induced pluripotent stem cell lines from healthy patients of African American ancestry.
  McKay Mullen, Ana Kojic, Christina Alamana, Gabriela Canel, Celine Lai, Joshua W Knowles, Joseph C Wu> ;Stem Cell Research. 2024 Apr 1
• A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes.
  Peter Saliba-Gustafsson, Johanne M Justesen, Amanda Ranta, Disha Sharma, Ewa Bielczyk-Maczynska, Jiehan Li, Laeya A Najmi, Maider Apodaka, Patricia Aspichueta, Hanna M...> ;Medrxiv. 2024 Feb 4
• Trends of Lipid Concentrations, Awareness, Evaluation, and Treatment in Severe Dyslipidemia in US Adults.
  Naman S Shetty, Mokshad Gaonkar, Nirav Patel, Joshua W Knowles, Pradeep Natarajan, Garima Arora, Pankaj Arora> ;Mayo Clinic Proceedings. 2024 Feb 1
• Impact of Virtual Interviewing on Cardiovascular Fellowship Applicant Diversity: Insights From 2 Academic Programs.
  Beyene, T., Gummipundi, S., Witting, C., Knowles, J., DeFaria Yeh, D., Heidenreich, P., Yong, C.> ;Journal of the American Heart Association. 2024 Jan 2
• 4 citations
  RNA Interference Therapy Targeting Apolipoprotein C-III in Hypertriglyceridemia.
  Gaudet, D., Clifton, P., Sullivan, D., Baker, J., Schwabe, C., Thackwray, S., Scott, R., Hamilton, J., Given, B., Melquist, S., Zhou, R., Chang, T., San Martin, J., Wa...> ;NEJM Evidence. 2023 Dec 1
• USPSTF Recommendation on Screening for Lipid Disorders in Children and Adolescents.
  Katherine Wilemon, Joshua W Knowles, Seth J Baum> ;JAMA. 2023 Nov 28
• 1 citations
  A single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes.
  Ewa Bielczyk-Maczynska, Disha Sharma, Montgomery Blencowe, Peter Saliba Gustafsson, Michael J Gloudemans, Xia Yang, Ivan Carcamo-Orive, Martin Wabitsch, Katrin J Svens...> ;American Journal of Physiology. Cell Physiology. 2023 Sep 1
• 16 citations
  RNA interference targeting ANGPTL3 for triglyceride and cholesterol lowering: phase 1 basket trial cohorts.
  Gerald F Watts, Christian Schwabe, Russell Scott, Patrick A Gladding, David Sullivan, John Baker, Peter Clifton, James Hamilton, Bruce Given, Stacey Melquist, Rong Zho...> ;Nature Medicine. 2023 Sep 1
• Plasma proteomic signatures of a direct measure of insulin sensitivity in two population cohorts.
  Daniela Zanetti, Laurel Stell, Stefan Gustafsson, Fahim Abbasi, Philip S Tsao, Joshua W Knowles, , Björn Zethelius, Johan Ärnlöv, Beverley Balkau, Mark Walker, Laura C...> ;Diabetologia. 2023 Sep 1
• Single-cell transcriptome dataset of human and mouse in vitro adipogenesis models.
  Jiehan Li, Christopher Jin, Stefan Gustafsson, Abhiram Rao, Martin Wabitsch, Chong Y Park, Thomas Quertermous, Joshua W Knowles, Ewa Bielczyk-Maczynska> ;Scientific Data. 2023 Jun 16
• in vitro.
  Jiehan Li, Christopher Jin, Stefan Gustafsson, Abhiram Rao, Martin Wabitsch, Chong Y Park, Thomas Quertermous, Ewa Bielczyk-Maczynska, Joshua W Knowles> ;Biorxiv. 2023 Mar 29
• The relationship between insulin resistance and ion mobility lipoprotein fractions.
  Charles M Rowland, Fahim Abbasi, Dov Shiffman, Joshua W Knowles, Michael J McPhaul> ;American Journal of Preventive Cardiology. 2023 Mar 1
• 1 citations
  G protein-coupled receptor 151 regulates glucose metabolism and hepatic gluconeogenesis.
  Ewa Bielczyk-Maczynska, Meng Zhao, Peter-James H Zushin, Theresia M Schnurr, Hyun-Jung Kim, Jiehan Li, Pratima Nallagatla, Panjamaporn Sangwung, Chong Y Park, Cameron ...> ;Nature Communications. 2022 Dec 1
• 4 citations
  Chronic liver disease-related mortality in diabetes before and during the COVID-19 in the United States.
  Donghee Kim, Omar Alshuwaykh, Brittany B Dennis, George Cholankeril, Joshua W Knowles, Aijaz Ahmed> ;Digestive and Liver Disease. 2023 Jan 1
• Analysis of Insulin Resistance Among Children and Adolescents in Slovenia With Hypercholesterolemia After Treatment With Statins.
  Urh Groselj, Jaka Sikonja, Matej Mlinaric, Primoz Kotnik, Tadej Battelino, Joshua W Knowles> ;JAMA Network Open. 2022 Sep 1
• 1 citations
  Creation of the American Heart Association Journals' Equity, Diversity, and Inclusion Editorial Board: The Next Step to Achieving the 2024 Impact Goal.
  Eldrin F Lewis, Christine Beaty, Johannes Boltze, Khadijah Breathett, Walter K Clair, Lisa de Las Fuentes, Utibe R Essien, Heather Goodell, H E Hinson, Kiarri N Kersha...> ;Circulation. 2022 Sep 6
• 5 citations
  Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD.
  Theresia M Schnurr, Sophia Figueroa Katz, Johanne M Justesen, Jack W O'Sullivan, Peter Saliba-Gustafsson, Themistocles L Assimes, Ivan Carcamo-Orive, Aijaz Ahmed, Euan...> ;Hepatology Communications. 2022 Jul 1
• 3 citations
  Generation of two iPSC lines from hypertrophic cardiomyopathy patients carrying MYBPC3 and PRKAG2 variants.
  Amit Manhas, James W S Jahng, Carlos D Vera, Sushma P Shenoy, Joshua W Knowles, Joseph C Wu> ;Stem Cell Research. 2022 May 1
• 5 citations
  Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure.
  Shoa L Clarke, Catherine Tcheandjieu, Austin T Hilliard, Kyung Min Lee, Julie Lynch, Kyong-Mi Chang, Donald Miller, Joshua W Knowles, Christopher O'Donnell, Philip S T...> ;Circulation. Genomic and Precision Medicine. 2022 Apr 1
• 5 citations
  Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes.
  Michael J Gloudemans, Brunilda Balliu, Daniel Nachun, Theresia M Schnurr, Matthew G Durrant, Erik Ingelsson, Martin Wabitsch, Thomas Quertermous, Stephen B Montgomery,...> ;Genome Medicine. 2022 Mar 15
• 83 citations
  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
  Shruti Marwaha, Joshua W Knowles, Euan A Ashley> ;Genome Medicine. 2022 Feb 28
• 70 citations
  Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
  Gorzynski, J., Goenka, S., Shafin, K., Jensen, T., Fisk, D., Grove, M., Spiteri, E., Pesout, T., Monlong, J., Baid, G., Bernstein, J., Ceresnak, S., Chang, P., Christl...> ;The New England Journal of Medicine. 2022 Feb 17
• 8 citations
  An integrated approach to identify environmental modulators of genetic risk factors for complex traits
  Brunilda Balliu, Ivan Carcamo-Orive, Michael J. Gloudemans, Daniel Nachun, Matthew G. Durrant, Steven Gazal, Chong Y. Park, David A. Knowles, Martin Wabitsch, Thomas Q...> ;American Journal of Human Genetics. 2021 Sep 27
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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
• Low salt intake down-regulates the guanylin signaling pathway in rat distal colon.  
  Li Z, Knowles JW, Goyeau D, Prabhakar S, Short DB, Perkins AG, Goy MF, Gastroenterology 1996;111(6):1714-1721
• 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
• Pressure-independent enhancement of cardiac hypertrophy in natriuretic peptide receptor A-deficient mice.  
  Knowles JW, Esposito G, Mao L, Hagaman JR, Fox JE, Smithies O, Rockman HA, Maeda N, J Clin Invest 2001;107(8):975-984
• Evidence for a novel natriuretic peptide receptor that prefers brain natriuretic peptide over atrial natriuretic peptide.  
  Goy MF, Oliver PM, Purdy KE, Knowles JW, Fox JE, Mohler PJ, Qian X, Smithies O, Maeda N, Biochem J 2001;358(Pt 2):379-387
• Ventricular expression of natriuretic peptides in Npr1(-/-) mice with cardiac hypertrophy and fibrosis.  
  Ellmers LJ, Knowles JW, Kim HS, Smithies O, Maeda N, Cameron VA, Am J Physiol Heart Circ Physiol 2002;283(2):H707-714
• Interactions between endothelial nitric oxide synthase and sex hormones in vascular protection in mice.  
  Hodgin JB, Knowles JW*, Kim HS, Smithies O, Maeda N, J Clin Invest 2002; 109(4):541-548
• Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects.  
  Knowles JW, Erickson LM, Guy VK, Sigel CS, Wilder JC, Maeda N, Hum Genet 2003;112(1):62-70
• Increased atherosclerosis and smooth muscle cell hypertrophy in natriuretic peptide receptor A-/-apolipoprotein E-/- mice.  
  Alexander MR, Knowles JW, Nishikimi T, Maeda N, Arterioscler Thromb Vasc Biol 2003;23(6):1077-1082
• Cardiac hypertrophy and sudden death in mice with a genetically clamped renin transgene.  
  Caron KM, James LR, Kim HS, Knowles J, Uhlir R, Mao L, Hagaman JR, Cascio W, Rockman H, Smithies O, Proc Natl Acad Sci U S A 2004;101(9):3106-3111
• Association of polymorphisms in platelet and hemostatis system genes with acute myocardial infarction.  
  Knowles JW, Wang H, Itakura H, Southwick A, Myers RM, Iribarren C, Fortmann SP, Go AS, Quertermous T, Hlatky MA, Am Heart J 2007 154(6):1052-1058
• A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease.  
  Assimes TL, Knowles JW, Priest JR, Basu A, Borchert A, Volcik KA, Grove ML, Tabor HK, Southwick A, Tabibiazar R, Sidney S, Boerwinkle E, Go AS, Iribarren C, Hlatky MA,..., Atherosclerosis 2008;198(1):136-144
• 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
• Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease.  
  Assimes TL, Knowles JW, Priest JR, Basu A, Volcik KA, Southwick A, Tabor HK, Hartiala J, Allayee H, Grove ML, Tabibiazar R, Sidney S, Fortmann SP, Go A, Hlatky M, Irib..., Hum Genet 2008;123(4): 399-408
• Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE Study.  
  Assimes TL, Knowles JW, Basu A, Iribarren C, Southwick A, Tang H, Absher D, Li J, Fair JM, Rubin GD, Sidney S, Fortmann SP, Go AS, Hlatky MA, Myers RM, Risch N, Querte..., Hum Mol Genet 2008;17(15): 2320-2328
• Characterizing the admixed African ancestry of African Americans.  
  Zakharia F, Basu A, Absher D, Assimes TL, Go AS, Hlatky MA, Iribarren C, Knowles JW, Li J, Narasimhan B, Sidney S, Southwick A, Myers RM, Quertermous T, Risch N, Tang H, Genome Biol 2009;10(12):R141
• Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.  
  Ingelsson E, [10 authors], Knowles JW, [54 authors], Florez JC, Diabetes 2010;59(5):1266-1275
• ADVANCE; [114 auth, 103 inst]. Genome-wide meta-analyses identify multiple loci associated with smoking behavior.  
  Dackor J, Tobacco & Genetics Consortium; Franceschini N, ARIC; Bernardinelli L, ATVB Italian Study Group; Knowles JW, Nat Genet 2010 May; 42(5):441-447
• Clinical assessment incorporating a personal genome.  
  Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS..., Lancet 2010 May; 375(9725):1525-1535
• Hundreds of variants clustered in genomic loci and biological pathways affect human height.  
  Lango Allen H, [51 authors], Knowles JW, [239 authors], Hirschhorn JN, Nature 2010 Oct;467(7317):832-838
• Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.  
  Speliotes EK, [136 authors], Knowles JW, [18 authors], Ludwig B; MAGIC, Manunta P, [153 authors], Watkins H, Nat Genet 2010 Nov;42(11):937-948
• Meta-analysis identifies 13 novel loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.  
  Heid IM, [39 authors], Wood AR; MAGIC, Estrada K, [24 authors], Knowles JW, [232 authors], Lindgren CM, Nature Genet 2010 Nov;42(11):949-960
• Lack of association between the Trp719Arg polymorphism in kinesin-like protein 6 and coronary artery disease in 19 case-control studies.  
  Assimes TL, [14 authors], Knowles JW, [83 authors], Ball SG, J Am Coll Cardiol 2010 Nov;56(19):1552-1563. Erratum in: J Am Coll Cardiol 2011 Jan;57(4):520
• 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
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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
• Enhanced atherosclerosis and kidney dysfunction in eNOS-/-Apoe-/- mice are ameliorated by enalapril treatment. 
  National MD/PhD Student Conference. Aspen, CO
• Enhanced atherosclerosis and kidney dysfunction in eNOS-/-Apoe-/- mice are ameliorated by enalapril treatment. 
  Arteriosclerosis, Thrombosis and Vascular Biology (ATVB) Meeting. Denver, 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. 
  National MD/PhD Student Conference Aspen, CO
• Natriuretic peptide receptor A knockout mice have an enhanced response to hypertrophic stimuli in the heart. 
  Snowbird, UY
• Genome Wide Association Study for Early Onset Coronary Disease and Related Phenotypes. 
  Cold Spring Harbor Meeting on Clinical Cardiovascular Genetics Cold Spring Harbor, NY
• Genome Wide Association Studies of Cardiovascular Disease. 
  Stanford Biostatistics Seminar Stanford, CA
• The Athlete’s Heart. 
  Senior Games of California Stanford, CA
• Genetics of Cardiovascular Disease. 
  Multiple Locations, 2010, 2011, 2012
• Genome wide association study for determinants of insulin sensitivity. 
  Multiple Locations, 2010
• Personalized medicine and genomics. 
  Stanford School of Medicine, Introductory Epidemiology Course (GENE210) Stanford, CA
• A pilot randomized trial of personal genomics for preventive cardiology. 
  Stanford Medical School lecture (MED223) Stanford, CA
• Atherogenesis. 
  Stanford, CA, 2011
• Health and Wellness for the Busy Executive. 
  Stanford Executive Program, Stanford Graduate School of Business Stanford, CA
• The Heart. 
  Stanford School of Medicine, Lecture for 1st year medical students Stanford, CA
• Impacts of Genomics on Disease Treatment. 
  Stanford, CA
• Randomized trial of personal genomics in preventive cardiology. 
  Stanford Cardiology Grand Rounds Stanford, CA
• Cardiovascular Genetics. 
  Multiple Locations, 2012, 2013
• A randomized trial of personal genomics for preventive cardiology: design and challenges. 
  American Heart Association National Meeting Los Angeles, CA
• Alcohol ablation or myectomy: Which for Whom. 
  Monterey, CA
• Focus on FH 
  Multiple Locations, 2012
• Approach to the Statin Intolerant Patient. 
  Stanford, CA
• Approach to the Statin Intolerant Patient. 
  Stanford Cardiology Grand Rounds, Stanford Stanford, CA
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