Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Discovering and Visualizing Disease-specific Electrocardiogram Features Using Deep Learning: Proof-of-concept in Phospholamban Gene Mutation Carriers 
    van de Leur, Rutger; Taha, Karim; Bos, Max N; van der Heijden, Jeroen F; Gupta, Deepak; Cramer, Maarten J; Hassink, Rutger J; van der Harst, Pim; Doevendans, Pieter A; Asselbergs, Folkert W; van Es, René (Lippincott Williams & Wilkins, 2021-02-01)
    Background: ECG interpretation requires expertise and is mostly based on physician recognition of specific patterns, which may be challenging in rare cardiac diseases. Deep neural networks (DNNs) can discover complex ...
  • The year in cardiovascular medicine 2020: digital health and innovation 
    Antoniades, Charalambos; Asselbergs, Folkert W; Vardas, Panos (Oxford University Press, 2021-02-14)
  • Temporal Evolution of Serum Concentrations of High-Sensitivity Cardiac Troponin During 1 Year After Acute Coronary Syndrome Admission 
    BIOMArCS investigators * (Wiley-Blackwell, 2021-01-05)
    Background Detailed insights in temporal evolution of high-sensitivity cardiac troponin following acute coronary syndrome (ACS) are currently missing. We aimed to describe and compare the post-ACS kinetics of high-sensitivity ...
  • Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Collaboration 
    Cadrin-Tourigny, Julia; Bosman, Laurens P; Wang, Weijia; Tadros, Rafik; Bhonsale, Aditya; Bourfiss, Mimount; Lie, Øyvind H; Saguner, Ardan M; Svensson, Anneli; Andorin, Antoine; Tichnell, Crystal; Murray, Brittney; Zeppenfeld, Katja; van den Berg, Maarten P; Asselbergs, Folkert W; Wilde, Arthur A M; Krahn, Andrew D; Talajic, Mario; Rivard, Lena; Chelko, Stephen; Zimmerman, Stefan L; Kamel, Ihab R; Crosson, Jane E; Judge, Daniel P; Yap, Sing-Chien; Van der Heijden, Jeroen F; Tandri, Harikrishna; Jongbloed, Jan D H; van Tintelen, J Peter; Platonov, Pyotr G; Duru, Firat; Haugaa, Kristina H; Khairy, Paul; Hauer, Richard N W; Calkins, Hugh; Te Riele, Anneline S J M; James, Cynthia A (Lippincott Williams & Wilkins, 2021-01)
    BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with ventricular arrhythmias (VA) and sudden cardiac death (SCD). A model was recently developed to predict incident sustained VA in patients ...
  • Functional investigation of the coronary artery disease gene SVEP1 
    Winkler, Michael J; Müller, Philipp; Sharifi, Amin M; Wobst, Jana; Winter, Hanna; Mokry, Michal; Ma, Lijiang; van der Laan, Sander W; Pang, Shichao; Miritsch, Benedikt; Hinterdobler, Julia; Werner, Julia; Stiller, Barbara; Güldener, Ulrich; Webb, Tom R; Asselbergs, Folkert W; Björkegren, Johan L M; Maegdefessel, Lars; Schunkert, Heribert; Sager, Hendrik B; Kessler, Thorsten (Springer Science and Business Media Deutschland GmbH, 2020-11-13)
    A missense variant of the sushi, von Willebrand factor type A, EGF and pentraxin domain containing protein 1 (SVEP1) is genome-wide significantly associated with coronary artery disease. The mechanisms how SVEP1 impacts ...
  • Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease 
    van den Akker, Erik B; Trompet, Stella; Barkey Wolf, Jurriaan J H; Beekman, Marian; Suchiman, H Eka D; Deelen, Joris; Asselbergs, Folkert W; Boersma, Eric; Cats, Davy; Elders, Petra M; Geleijnse, J Marianne; Ikram, M Arfan; Kloppenburg, Margreet; Mei, Haillang; Meulenbelt, Ingrid; Mooijaart, Simon P; Nelissen, Rob G H H; Netea, Mihai G; Penninx, Brenda W J H; Slofstra, Mariska; Stehouwer, Coen D A; Swertz, Morris A; Teunissen, Charlotte E; Terwindt, Gisela M; 't Hart, Leen M; van den Maagdenberg, Arn M J M; van der Harst, Pim; van der Horst, Iwan C C; van der Kallen, Carla J H; van Greevenbroek, Marleen M J; van Spil, W Erwin; Wijmenga, Cisca; Zhernakova, Alexandra; Zwinderman, Aeilko H; Sattar, Naveed; Jukema, J Wouter; van Duijn, Cornelia M; Boomsma, Dorret I; Reinders, Marcel J T; Slagboom, P Eline (Lippincott Williams & Wilkins, 2020-10)
    BACKGROUND: The blood metabolome incorporates cues from the environment and the host's genetic background, potentially offering a holistic view of an individual's health status. METHODS: We have compiled a vast resource ...
  • Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease 
    Helgadottir, Anna; Thorleifsson, Gudmar; Alexandersson, Kristjan F; Tragante, Vinicius; Thorsteinsdottir, Margret; Eiriksson, Finnur F; Gretarsdottir, Solveig; Björnsson, Eythór; Magnusson, Olafur; Sveinbjornsson, Gardar; Jonsdottir, Ingileif; Steinthorsdottir, Valgerdur; Ferkingstad, Egil; Jensson, Brynjar Ö; Stefansson, Hreinn; Olafsson, Isleifur; Christensen, Alex H; Torp-Pedersen, Christian; Køber, Lars; Pedersen, Ole B; Erikstrup, Christian; Sørensen, Erik; Brunak, Søren; Banasik, Karina; Hansen, Thomas F; Nyegaard, Mette; Eyjolfssson, Gudmundur I; Sigurdardottir, Olof; Thorarinsson, Bjorn L; Matthiasson, Stefan E; Steingrimsdottir, Thora; Bjornsson, Einar S; Danielsen, Ragnar; Asselbergs, Folkert W; Arnar, David O; Ullum, Henrik; Bundgaard, Henning; Sulem, Patrick; Thorsteinsdottir, Unnur; Thorgeirsson, Gudmundur; Holm, Hilma; Gudbjartsson, Daniel F; Stefansson, Kari (Oxford University Press, 2020-07-21)
    AIMS: To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of ...
  • Predicting major adverse cardiovascular events for secondary prevention: protocol for a systematic review and meta-analysis of risk prediction models 
    Akyea, Ralph K; Leonardi-Bee, Jo; Asselbergs, Folkert W; Patel, Riyaz S; Durrington, Paul; Wierzbicki, Anthony S; Ibiwoye, Oluwaseun H; Kai, Joe; Qureshi, Nadeem; Weng, Stephen F (BMJ Publishing Group, 2020-07-27)
    INTRODUCTION: Cardiovascular disease (CVD) is the leading cause of morbidity and mortality globally. With advances in early diagnosis and treatment of CVD and increasing life expectancy, more people are surviving initial ...
  • Genetic drug target validation using Mendelian randomisation 
    Schmidt, Amand F; Finan, Chris; Gordillo-Marañón, Maria; Asselbergs, Folkert W; Freitag, Daniel F; Patel, Riyaz S; Tyl, Benoît; Chopade, Sandesh; Faraway, Rupert; Zwierzyna, Magdalena; Hingorani, Aroon D (Nature Publishing Group, 2020-06-26)
    Mendelian randomisation (MR) analysis is an important tool to elucidate the causal relevance of environmental and biological risk factors for disease. However, causal inference is undermined if genetic variants used to ...
  • Pulmonary artery pressure-guided therapy in ambulatory patients with symptomatic heart failure: the CardioMEMS European Monitoring Study for Heart Failure (MEMS-HF) 
    MEMS-HF Investigators (Oxford University Press, 2020-10)
    Aims: Heart failure (HF) leads to repeat hospitalisations and reduces the duration and quality of life. Pulmonary artery pressure (PAP)-guided HF management using the CardioMEMS™ HF system was shown to be safe and reduce ...
  • Comorbidities and cause-specific outcomes in heart failure across the ejection fraction spectrum: A blueprint for clinical trial design 
    Savarese, Gianluigi; Settergren, Camilla; Schrage, Benedikt; Thorvaldsen, Tonje; Löfman, Ida; Sartipy, Ulrik; Mellbin, Linda; Meyers, Andrea; Farsani, Soulmaz Fazeli; Brueckmann, Martina; Brodovicz, Kimberly G; Vedin, Ola; Asselbergs, Folkert W; Dahlström, Ulf; Cosentino, Francesco; Lund, Lars H (Elsevier Ireland Ltd, 2020-08-15)
    BACKGROUND: Comorbidities may differently affect treatment response and cause-specific outcomes in heart failure (HF) with preserved (HFpEF) vs. mid-range/mildly-reduced (HFmrEF) vs. reduced (HFrEF) ejection fraction (EF), ...
  • Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R; Oddsson, Asmundur; Magnusson, Magnus K; Kristjansson, Ragnar P; Halldorsson, Gisli H; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V; Arnadottir, Gudny A; Jensson, Brynjar O; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M; Lee, Amy L; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K; Davidsson, Olafur B; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L; Asselbergs, Folkert W; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T; Gudbjartsson, Daniel F; Norddahl, Gudmundur L; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (Springer Nature, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide ...
  • Polygenic risk scores for coronary artery disease and subsequent event risk amongst established cases 
    Howe, Laurence J; Dudbridge, Frank; Schmidt, Amand F; Finan, Chris; Denaxas, Spiros; Asselbergs, Folkert W; Hingorani, Aroon D; Patel, Riyaz S (Oxford University Press, 2020-05-28)
    Background: There is growing evidence that polygenic risk scores (PRSs) can identify individuals with elevated lifetime risk of coronary artery disease (CAD). Whether they can also be used to stratify the risk of subsequent ...
  • Bedside testing of CYP2C19 gene for treatment of patients with PCI with antiplatelet therapy 
    Al-Rubaish, Abdullah M; Al-Muhanna, Fahad A; Alshehri, Abdullah M; Al-Mansori, Mohammed A; Alali, Rudaynah A; Khalil, Rania M; Al Faraidy, Khalid A; Cyrus, Cyril; Sulieman, Mohammed M; Vatte, Chittibabu; Claassens, Daniel M F; Ten Berg, Jurriën M; Asselbergs, Folkert W; Al-Ali, Amein K (BioMed Central, 2020-06-03)
    BACKGROUND: To mitigate the risk of stent thrombosis, patients treated by percutaneous coronary intervention (PCI) are administered dual anti-platelet therapy comprising aspirin and a platelet P2Y12 receptor inhibitor. ...
  • Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy 
    Schuldt, Maike; Pei, Jiayi; Harakalova, Magdalena; Dorsch, Larissa M; Schlossarek, Saskia; Mokry, Michal; Knol, Jaco C; Pham, Thang V; Schelfhorst, Tim; Piersma, Sander R; Dos Remedios, Cris; Dalinghaus, Michiel; Michels, Michelle; Asselbergs, Folkert W; Moutin, Marie-Jo; Carrier, Lucie; Jimenez, Connie R; van der Velden, Jolanda; Kuster, Diederik W D (Lippincott Williams & Wilkins, 2021-01)
    BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. While ≈50% of patients with HCM carry a sarcomere gene mutation (sarcomere mutation-positive, HCMSMP), the genetic background is unknown ...
  • Sex, Age, and Socioeconomic Differences in Nonfatal Stroke Incidence and Subsequent Major Adverse Outcomes 
    Akyea, Ralph K; Vinogradova, Yana; Qureshi, Nadeem; Patel, Riyaz S; Kontopantelis, Evangelos; Ntaios, George; Asselbergs, Folkert W; Kai, Joe; Weng, Stephen F (Lippincott Williams & Wilkins, 2021-01)
    BACKGROUND AND PURPOSE: Data about variations in stroke incidence and subsequent major adverse outcomes are essential to inform secondary prevention and prioritizing resources to those at the greatest risk of major adverse ...
  • Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank 
    Olafsdottir, Thorhildur; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Olafur A; Medek, Helga; Olafsson, Karl; Ingthorsson, Orri; Gudmundsson, Valur; Jonsdottir, Ingileif; Halldorsson, Gisli H; Kristjansson, Ragnar P; Frigge, Michael L; Stefansdottir, Lilja; Sigurdsson, Jon K; Oddsson, Asmundur; Sigurdsson, Asgeir; Eggertsson, Hannes P; Melsted, Pall; Halldorsson, Bjarni V; Lund, Sigrun H; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Gudmundsson, Julius; Holm, Hilma; Tragante, Vinicius; Asselbergs, Folkert W; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F; Jonsdottir, Kristin; Rafnar, Thorunn; Stefansson, Kari (Springer Nature, 2020-12-01)
    Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland ...
  • Natural Language Processing for Mimicking Clinical Trial Recruitment in Critical Care: A Semi-Automated Simulation Based on the LeoPARDS Trial 
    Tissot, Hegler C; Shah, Anoop D; Brealey, David; Harris, Steve; Agbakoba, Ruth; Folarin, Amos; Romao, Luis; Roguski, Lukasz; Dobson, Richard; Asselbergs, Folkert W (Institute of Electrical and Electronics Engineers Inc., 2020-10)
    Clinical trials often fail to recruit an adequate number of appropriate patients. Identifying eligible trial participants is resource-intensive when relying on manual review of clinical notes, particularly in critical care ...
  • Assessing thyroid cancer risk using polygenic risk scores 
    Liyanarachchi, Sandya; Gudmundsson, Julius; Ferkingstad, Egil; He, Huiling; Jonasson, Jon G; Tragante, Vinicius; Asselbergs, Folkert W; Xu, Li; Kiemeney, Lambertus A; Netea-Maier, Romana T; Mayordomo, Jose I; Plantinga, Theo S; Hjartarson, Hannes; Hrafnkelsson, Jon; Sturgis, Erich M; Brock, Pamela; Nabhan, Fadi; Thorleifsson, Gudmar; Ringel, Matthew D; Stefansson, Kari; de la Chapelle, Albert (National Academy of Sciences, 2020-03-17)
    Genome-wide association studies (GWASs) have identified at least 10 single-nucleotide polymorphisms (SNPs) associated with papillary thyroid cancer (PTC) risk. Most of these SNPs are common variants with small to moderate ...
  • Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure 
    Regeneron Genetics Center (Nature Publishing Group, 2020-01-09)
    Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded ...