Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Determinants of Citizens' Intention to Participate in Self-Led Contact Tracing: Cross-Sectional Online Questionnaire Study 
    Helms, Yannick Bernd; van der Meer, Akke; Crutzen, Rik; Ferreira, José António; Kretzschmar, Mirjam E E; Timen, Aura; Hamdiui, Nora; Stein, Mart L (JMIR Publications Inc., 2024-10-30)
    BACKGROUND: Contact tracing (CT) is a key intervention to contain outbreaks of communicable diseases. During large-scale outbreaks, public health services may lack the resources required to perform CT effectively. One way ...
  • ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management 
    Colas, Chrystelle; Guerrini-Rousseau, Léa; Suerink, Manon; Gallon, Richard; Kratz, Christian P.; Ayuso, Éloïse; Svrcek, Magali; Ruiz-Ponte, Clara; van Kouwen, Mariëtte; Jongmans, Marjolijn C.J.; Drouet, Youenn; Dangouloff-ros, Volodia; Claret, Beatrice; Burkhardt, Birgit; Beccaria, Kevin; Azizi, Amedeo A.; Andreiuolo, Felipe; Brugières, Laurence; Wimmer, Katharina; ERN GENTURIS CMMRD Guideline Group; Member of the European consortium Care for CMMRD (C4CMMRD); Member of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) (Springer Nature, 2024-12)
    Constitutional mismatch repair deficiency (CMMRD), first described 25 years ago, confers an extremely high and lifelong cancer risk, including haematologic, brain, and gastrointestinal tract malignancies, and is associated ...
  • Case Report: Optimal utilization of marginal lung allografts by considering donor–recipient PGD risk compatibility and by mitigating allograft and recipient inflammatory risk 
    Braithwaite, Sue A.; Jennekens, Jitte; Berg, Elize M.; de Heer, Linda M.; Ramjankhan, Faiz; de Jong, Michel; Luc Charlier, Jean; Dessing, Thomas C.; Veltkamp, Marcel; Scheren, Amy S.; Ruigrok, Dieuwertje; Schönwetter, Rob H.J.; Buhre, Wolfgang F.F.A.; van der Kaaij, Niels P. (2024-10-03)
    Reducing the risk of high-grade primary graft dysfunction (PGD) is vital to achieve acceptable short- and long-term outcomes for recipients following lung transplantation. However, the utilization of injured lung allografts, ...
  • Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases 
    Velde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, H. G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; DOOFNL Consortium; Pennings, Ronald Je; Kremer, Hannie (Springer-Verlag, 2024-11)
    Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing. One reason is that pathogenic variants are located ...
  • Genetic overlap between idiopathic scoliosis and schizophrenia in the general population 
    de Reuver, Steven; Engchuan, Worrawat; Safarian, Nickie; Zarrei, Mehdi; Vorstman, Jacob A.S.; Castelein, René M.; Breetvelt, Elemi J. (Elsevier, 2025-03)
    Introduction: Adolescent idiopathic scoliosis (AIS) and schizophrenia (SCZ) are two distinct conditions with poorly understood aetiologies that both emerge in otherwise healthy young adolescents. One rare genetic condition ...
  • Failure to Rescue After Resection of Perhilar Cholangiocarcinoma in an International Multicenter Cohort 
    Olthof, Pim B.; Bouwense, Stefan A.W.; Bednarsch, Jan; Dewulf, Maxime; Kazemier, Geert; Maithel, S. K.; Jarnagin, William R.; Aldrighetti, Luca; Roberts, Keith J.; Troisi, Roberto I.; Malago, Massimo M.; Lang, Hauke; Alikhanov, Ruslan; Ruzzenente, Andrea; Malik, Hassan; Charco, Ramón; Sparrelid, Ernesto; Pratschke, Johann; Cescon, Matteo; Nadalin, Silvio; Hagendoorn, Jeroen; Schadde, Erik; Hoogwater, Frederik J.H.; Schnitzbauer, Andreas A.; Topal, Baki; Lodge, Peter; Olde Damink, Steven W.M.; Neumann, Ulf P.; Groot Koerkamp, Bas; on behalf of the Perihilar Cholangiocarcinoma Collaboration Group (Springer New York, 2025-03)
    Background: Failure to rescue (FTR) is defined as the inability to prevent death after the development of a complication. FTR is a parameter in evaluating multidisciplinary postoperative complication management. The aim ...
  • EAACI guidelines on the management of IgE-mediated food allergy 
    Santos, Alexandra F; Riggioni, Carmen; Agache, Ioana; Akdis, Cezmi A; Akdis, Mubeccel; Alvarez-Perea, Alberto; Alvaro-Lozano, Montserrat; Ballmer-Weber, Barbara; Barni, Simona; Beyer, Kirsten; Bindslev-Jensen, Carsten; Brough, Helen A; Buyuktiryaki, Betul; Chu, Derek; Del Giacco, Stefano; Dunn-Galvin, Audrey; Eberlein, Bernadette; Ebisawa, Motohiro; Eigenmann, Philippe; Eiwegger, Thomas; Feeney, Mary; Fernandez-Rivas, Montserrat; Fiocchi, Alessandro; Fisher, Helen R; Fleischer, David M; Giovannini, Mattia; Gray, Claudia; Hoffmann-Sommergruber, Karin; Halken, Susanne; O'B Hourihane, Jonathan; Jones, Christina J; Jutel, Marek; Knol, Edward F; Konstantinou, George N; Lack, Gideon; Lau, Susanne; Mejias, Andreina Marques; Marchisotto, Mary Jane; Meyer, Rosan; Mortz, Charlotte G; Moya, Beatriz; Muraro, Antonella; Nilsson, Caroline; de Oliveira, Lucila Camargo Lopes; O'Mahony, Liam; Papadopoulos, Nikolaos G; Perrett, Kirsten P; Peters, Rachel; Podesta, Marcia; Poulsen, Lars K; Roberts, Graham; Sampson, Hugh; Schwarze, Jürgen; Smith, Peter; Tham, Elizabeth; Untersmayr, Eva; Van Ree, Ronald; Venter, Carina; Vickery, Brian; Vlieg-Boerstra, Berber; Werfel, Thomas; Worm, Margitta; Du Toit, George; Skypala, Isabel (Wiley-Blackwell, 2025-01)
    This European Academy of Allergy and Clinical Immunology (EAACI) guideline provides recommendations for the management of IgE-mediated food allergy and was developed using the Grading of Recommendations, Assessment, ...
  • Persistence of seroconversion at 6 months following primary immunisation in patients with immune-mediated inflammatory diseases 
    Wieske, Luuk; Stalman, Eileen W.; Van Dam, P. J.Koos; Kummer, Laura Y.; Steenhuis, Maurice; Van Kempen, Zoe L.E.; Killestein, Joep; Volkers, Adriaan G.; Tas, Sander W.; Boekel, Laura; Wolbink, Gertjan; Van Der Kooi, Anneke; Raaphorst, Joost; Löwenberg, Mark; Takkenberg, Bart; D'Haens, Geert R.A.M.; Spuls, Phyllis I.; Bekkenk, Marcel W.; Musters, Annelie H.; Post, Nicoline F.; Bosma, Angela L.; Hilhorst, Marc L.; Vegting, Yosta; Bemelman, Frederique J.; Voskuyl, Alexandre; Broens, Bo; Parra Sanchez, Agner; Van Els, Cécile A.C.M.; Wit, Jelle De; Rutgers, Abraham; De Leeuw, Karina; Horváth, Barbara; Verschuuren, Jan J.G.M.; Ruiter, Annabel M.; Van Ouwerkerk, Lotte; Van Der Woude, Diane; Allaart, Cornelia F.; Teng, Y. K.Onno; Van Paassen, Pieter; Busch, Matthias H.; Jallah, Papay B.P.; Brusse, Esther; Van Doorn, Pieter A.; Baars, Adája Elisabeth; Hijnen, Dirkjan; Schreurs, Corine R.G.; Van Der Pol, W. Ludo; Goedee, H. Stephan; Keijzer, Sofie; Keijser, Jim; Cristianawati, Olvi; Ten Brinke, Anja; Verstegen, Niels J.M.; Zwinderman, Koos A.H.; Van Ham, S. Marieke; Kuijpers, Taco W.; Rispens, Theo; Eftimov, Filip (Elsevier, 2023-06-01)
  • Pharmacokinetics of oral and subcutaneous methotrexate in red and white blood cells in patients with early rheumatoid arthritis: the methotrexate monitoring trial 
    Hebing, Renske C.F.; Lin, Marry; Bulatovic Calasan, Maja; Muller, Ittai B.; Mahmoud, Sohaila; Heil, Sandra; Struys, Eduard A.; Van Den Bemt, Bart J.F.; Twisk, Jos W.R.; Lems, Willem; Nurmohamed, Michael T.; Jansen, Gerrit; De Jonge, Robert (Elsevier, 2023-04-01)
    Objective To investigate the pharmacokinetics of methotrexate polyglutamate (MTX-PG) accumulation in red blood cells (RBCs) and peripheral blood mononuclear cells (PBMCs) in patients with early rheumatoid arthritis (RA) ...
  • Complex challenges for patients with protracted incurable cancer: an ethnographic study in a comprehensive cancer centre in the Netherlands 
    Buiting, H.M.; Ark, van , M.A.C.; Dethmers, O.; Maats, Emma; Stoker, J.A.; Sonke, G.S. (BMJ Publishing Group, 2019-03-01)
    Objective Advances in oncology increasingly result in protracted disease trajectories for patients with incurable cancer. In this disease phase, patients are aware of the incurable nature of cancer although they are not ...
  • Histones: coming of age in Mendelian genetic disorders 
    Knapp, Karen; Naik, Nihar; Ray, Sankalita; Van Haaften, Gijs; Bicknell, Louise S. (BMJ Publishing Group, 2023-03)
    Histones hold significant interest in development and genetic disorders due to their critical roles in chromatin dynamics, influencing gene expression and genome integrity. These roles are linked to alterations of ...
  • Genome-wide copy number variant screening of Saudi schizophrenia patients reveals larger deletions in cases versus controls 
    Abumadini, Mahdi S.; Al Ghamdi, Kholoud S.; Alqahtani, Abdullah H.; Almedallah, Dana K.; Callans, Lauren; Jarad, Jumanah A.; Cyrus, Cyril; Koeleman, Bobby P.C.; Keating, Brendan J.; Pankratz, Nathan; Al-Ali, Amein K. (Frontiers Media S. A., 2023-02-10)
    Introduction: Genome-wide association studies have discovered common polymorphisms in regions associated with schizophrenia. No genome-wide analyses have been performed in Saudi schizophrenia subjects. Methods: Genome-wide ...
  • Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases 
    de Klein, Niek; Tsai, Ellen A.; Vochteloo, Martijn; Baird, Denis; Huang, Yunfeng; Chen, Chia Yen; van Dam, Sipko; Oelen, Roy; Deelen, Patrick; Bakker, Olivier B.; El Garwany, Omar; Ouyang, Zhengyu; Marshall, Eric E.; Zavodszky, Maria I.; van Rheenen, Wouter; Bakker, Mark K.; Veldink, Jan; Gaunt, Tom R.; Runz, Heiko; Franke, Lude; Westra, Harm Jan (Nature Research, 2023-03)
    Identification of therapeutic targets from genome-wide association studies (GWAS) requires insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing samples from 14 brain datasets to create the ...
  • Altered blood gene expression in the obesity-related type 2 diabetes cluster may be causally involved in lipid metabolism: a Mendelian randomisation study 
    de Klerk, Juliette A.; Beulens, Joline W.J.; Mei, Hailiang; Bijkerk, Roel; van Zonneveld, Anton Jan; Koivula, Robert W.; Elders, Petra J.M.; ’t Hart, Leen M.; Slieker, Roderick C. (Springer-Verlag, 2023-06)
    Aims/hypothesis: The aim of this study was to identify differentially expressed long non-coding RNAs (lncRNAs) and mRNAs in whole blood of people with type 2 diabetes across five different clusters: severe insulin-deficient ...
  • Identification of stage I/II melanoma patients at high risk for recurrence using a model combining clinicopathologic factors with gene expression profiling (CP-GEP) 
    Amaral, Teresa; Sinnberg, Tobias; Chatziioannou, Eftychia; Niessner, Heike; Leiter, Ulrike; Keim, Ulrike; Forschner, Andrea; Dwarkasing, Jvalini; Tjien-Fooh, Félicia; Wever, Renske; Flatz, Lukas; Eggermont, Alexander; Forchhammer, Stephan (Elsevier Limited, 2023-03)
    Purpose: Patients with cutaneous melanoma stage I/IIA disease are currently not eligible for adjuvant therapy, despite their risk for relapses and death. This study validates the ability of a model combining clinicopathologic ...
  • Cartilage repair strategies in the knee according to Dutch Orthopedic Surgeons: a survey study 
    Jeuken, R. M.; van Hugten, P. P.W.; Roth, A. K.; Boymans, T. A.E.J.; Caron, J.; Weber, A.; Custers, R. J.H.; Emans, P. J. (Springer-Verlag, 2023-08)
    Background: This study surveyed Dutch orthopedic surgeons on the management of cartilage defects in the knee and the adherence to the recently updated Dutch knee cartilage repair consensus statement (DCS). Methods: A ...
  • Candida khanbhai sp. nov., a new clinically relevant yeast within the Candida haemulonii species complex 
    De Jong, Auke W.; Al-Obaid, Khaled; Mohd Tap, Ratna; van den Ende, Bert Gerrits; Groenewald, Marizeth; Joseph, Leena; Ahmad, Suhail; Hagen, Ferry (Informa Healthcare, 2023-02-01)
    Invasive fungal infections caused by non-albicans Candida species are increasingly reported. Recent advances in diagnostic and molecular tools enabled better identification and detection of emerging pathogenic yeasts. The ...
  • Higher risk of SARS-CoV-2 Omicron BA.4/5 infection than of BA.2 infection after previous BA.1 infection, the Netherlands, 2 May to 24 July 2022 
    Andeweg, Stijn P.; de Gier, Brechje; Vennema, Harry; van Walle, Ivo; van Maarseveen, Noortje; Kusters, Nina E.; de Melker, Hester E.; Hahné, Susan J.M.; van den Hof, Susan; Eggink, Dirk; Knol, Mirjam J. (Centre Europeen pour la Surveillance Epidemiologique du SIDA, 2023-02-16)
    Background: In summer 2022, SARS-CoV-2 Omicron BA.5 became dominant in Europe. In vitro studies have shown a large reduction of antibody neutralisation for this variant. Aim: We aimed to investigate differences in protection ...
  • Warranty period of coronary computed tomography angiography and [15O]H2O positron emission tomography in symptomatic patients 
    Jukema, Ruurt; Maaniitty, Teemu; van Diemen, Pepijn; Berkhof, Hans; Raijmakers, Pieter G.; Sprengers, Ralf; Planken, R. Nils; Knaapen, Paul; Saraste, Antti; Danad, Ibrahim; Knuuti, Juhani (Oxford University Press, 2023-03-01)
    Aims Data on the warranty period of coronary computed tomography angiography (CTA) and combined coronary CTA/positron emission tomography (PET) are scarce. The present study aimed to determine the event-free (warranty) ...
  • Sex differences in dementia risk and risk factors: Individual-participant data analysis using 21 cohorts across six continents from the COSMIC consortium 
    Gong, Jessica; Harris, Katie; Lipnicki, Darren M.; Castro-Costa, Erico; Lima-Costa, Maria Fernanda; Diniz, Breno S.; Xiao, Shifu; Lipton, Richard B.; Katz, Mindy J.; Wang, Cuiling; Preux, Pierre Marie; Guerchet, Maëlenn; Gbessemehlan, Antoine; Ritchie, Karen; Ancelin, Marie Laure; Skoog, Ingmar; Najar, Jenna; Sterner, Therese Rydberg; Scarmeas, Nikolaos; Yannakoulia, Mary; Kosmidis, Mary H.; Guaita, Antonio; Rolandi, Elena; Davin, Annalisa; Gureje, Oye; Trompet, Stella; Gussekloo, Jacobijn; Riedel-Heller, Steffi; Pabst, Alexander; Röhr, Susanne; Shahar, Suzana; Singh, Devinder Kaur Ajit; Rivan, Nurul Fatin Malek; Boxtel, Martin van; Köhler, Sebastian; Ganguli, Mary; Chang, Chung Chou; Jacobsen, Erin; Haan, Mary; Ding, Ding; Zhao, Qianhua; Xiao, Zhenxu; Narazaki, Kenji; Chen, Tao; Chen, Sanmei; Ng, Tze Pin; Gwee, Xinyi; Numbers, Katya; Mather, Karen A.; Scazufca, Marcia; Lobo, Antonio; De-la-Cámara, Concepción; Lobo, Elena; Sachdev, Perminder S.; Brodaty, Henry; Hackett, Maree L.; Peters, Sanne A.E.; Woodward, Mark (John Wiley & Sons Inc., 2023-08)
    Introduction: Sex differences in dementia risk, and risk factor (RF) associations with dementia, remain uncertain across diverse ethno-regional groups. Methods: A total of 29,850 participants (58% women) from 21 cohorts ...