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UMC Repository: Recent submissions

  • Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice 
    Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Celeste Simon, M.; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Andrews, Marisa; Baldridge, Dustin; Constantino, John; van Haeringen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M.; Au, Margaret; Faivre, Laurence; Shen, Wei; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Macklin-Mantia, Sarah; Meerschaut, Ilse; Callewaert, Bert; Reis, André; Zweier, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pier, Danielle; Wortmann, Saskia; Kamsteeg, Erik Jan; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denommé-Pichon, Anne Sophie; Weber, Sacha; de la Fuente, Rubén Pérez; del Pozo, Jaime Sánchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Them, Frédéric Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sébastien; Cueto-González, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Øyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A.F. (American Association for the Advancement of Science, 2023-03)
    Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, ...
  • Cognitive and Behavioral Development of 9-Year-Old Children after Maternal Cancer during Pregnancy: A Prospective Multicenter Cohort Study 
    Van Assche, Indra A.; Huis In 'T Veld, Evangeline A.; Van Calsteren, Kristel; Van Gerwen, Mathilde; Blommaert, Jeroen; Cardonick, Elyce; Halaska, Michael J.; Fruscio, Robert; Fumagalli, Monica; Lemiere, Jurgen; Van Dijk-Lokkart, Elisabeth M.; Fontana, Camilla; Van Tinteren, Harm; De Ridder, Jessie; Van Grotel, Martine; Van Den Heuvel-Eibrink, Marry M.; Lagae, Lieven; Amant, Frédéric (Lippincott Williams & Wilkins, 2023-03-10)
    Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are ...
  • Association of Subjective Cognitive Decline With Progression to Dementia in a Cognitively Unimpaired Multiracial Community Sample 
    Chapman, Silvia; Rentería, Miguel Arce; Dworkin, Jordan D.; Garriga, Stella M.; Barker, Megan S.; Avila-Rieger, Justina; Gonzalez, Christopher; Joyce, Jillian L.; Vonk, Jet M.J.; Soto, Elizabeth; Manly, Jennifer J.; Brickman, Adam M.; Mayeux, Richard P.; Cosentino, Stephanie A. (Lippincott Williams & Wilkins, 2023-03-07)
    Background and ObjectivesThis prospective study seeks to examine the utility of subjective cognitive decline (SCD) as a marker of future progression to dementia in a community-based cohort of non-Latinx White, non-Latinx ...
  • Single-Cell Analysis in Blood Reveals Distinct Immune Cell Profiles in Gouty Arthritis 
    Wang, Maojie; Chen, Wenying; Zhang, Xiaolin; Mei, Liyan; Wu, Xiaodong; Chen, Xiumin; Yang, Zhihua; Gao, Kaixin; Huang, Huanjie; Huang, Runyue (American Association of Immunologists, 2023-03-15)
    Gout is a chronic disease caused by monosodium urate crystal deposition. Previous studies have focused on the resident macrophage, infiltrating monocyte, and neutrophil responses to monosodium urate crystal, yet the ...
  • PROMs and PREMs in routine perinatal care: mixed methods evaluation of their implementation into integrated obstetric care networks 
    Depla, Anne L.; Pluut, Bettine; Lamain-de Ruiter, Marije; Kersten, Anna W.; Evers, Inge M.; Franx, Arie; Bekker, Mireille N. (Springer International Publishing AG, 2023-12)
    Background: In the transition towards value-based healthcare, patient-reported outcome and experience measures (PROM and PREM) are recommended by international collaborations and government programs to guide clinical ...
  • Study protocol: Effectiveness of dual-mobility cups compared with uni-polar cups for preventing dislocation after primary total hip arthroplasty in elderly patients — design of a randomized controlled trial nested in the Dutch Arthroplasty Registry 
    Van Beers, Loes W.A.H.; Van Der Wal, Bart C.H.; Van Loon, Tess Glastra; Moojen, Dirk Jan F.; Van Wier, Marieke F.; Klaassen, Amanda D.; Willigenburg, Nienke W.; Poolman, Rudolf W. (Informa Healthcare, 2020-10)
    Background and purpose — Dislocation is the leading reason for early revision surgery after total hip arthroplasty (THA). The dual-mobility (DM) cup was developed to provide more stability and mechanically reduce the risk ...
  • Targeted Radionuclide Therapy of Cancer and Infections 
    van der Wal, Bart C.H.; Dadachova, Ekaterina (Multidisciplinary Digital Publishing Institute (MDPI), 2023-05)
  • Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue 
    Sanders, Maurits W.; Van Der Wolf, Iskander; Jansen, Floor E.; Aronica, Eleonora; Helmstaedter, Christoph; Racz, Attila; Surges, Rainer; Grote, Alexander; Becker, Albert J.; Rheims, Sylvain; Catenoix, Hélène; Duncan, John S.; De Tisi, Jane; Jacques, Thomas S.; Cross, J. Helen; Kalviainen, Reetta; Rauramaa, Tuomas; Chassoux, Francine; Devaux, Bertrand C.; Di Gennaro, Giancarlo; Esposito, Vincenzo; Bodi, Istvan; Honavar, Mrinalini; Bien, Christian G.; Cloppenborg, Thomas; Coras, Roland; Hamer, Hajo M.; Marusic, Petr; Kalina, Adam; Pieper, Tom; Kudernatsch, Manfred; Hartlieb, Till S.; Von Oertzen, Tim J.; Aichholzer, Martin; Dorfmuller, Georg; Chipaux, Mathilde; Noachtar, Soheyl; Kaufmann, Elisabeth; Schulze-Bonhage, Andreas; Scheiwe, Christian F.; Özkara, Cigdem; Grunwald, Thomas; Koenig, Kristina; Guerrini, Renzo; Barba, Carmen; Buccoliero, Anna Maria; Giordano, Flavio; Rosenow, Felix; Menzler, Katja; Garbelli, Rita; Deleo, Francesco; Krsek, Pavel; Straka, Barbora; Arzimanoglou, Alexis A.; Toulouse, Joseph; Van Paesschen, Wim; Theys, Tom; Pimentel, José; Loução De Amorim, Isabel M.; Specchio, Nicola; De Palma, Luca; Feucht, Martha; Scholl, Theresa; Roessler, Karl; Toledano Delgado, Rafael; Gil-Nagel, Antonio; Raicevic, Savo; Ristic, Aleksandar J.; Schijns, Olaf; Beckervordersandforth, Jan; San Antonio-Arce, Victoria; Rumia, Jordi; Blumcke, Ingmar; Braun, Kees P. (Lippincott Williams & Wilkins, 2024-02-27)
    Background and Objective Patients with presumed nonlesional focal epilepsy - based on either MRI or histopathologic findings - have a lower success rate of epilepsy surgery compared with lesional patients. In this study, ...
  • Locoregional control in high-risk neuroblastoma using highly-conformal image-guided radiotherapy, with reduced margins and a boost dose for residual lesions 
    Samim, Atia; Littooij, Annemieke S; Peters, Max; de Keizer, Bart; van der Steeg, Alida F W; Fajardo, Raquel Dávila; Kraal, Kathelijne C J M; Dierselhuis, Miranda P; van Eijkelenburg, Natasha K A; van Grotel, Martine; Polak, Roel; van de Ven, Cornelis P; Wijnen, Marc H W A; Seravalli, Enrica; Willemsen-Bosman, Mirjam E; van Noesel, Max M; Tytgat, Godelieve A M; Janssens, Geert O (Elsevier Ireland Ltd, 2025-01)
    Introduction: Radiotherapy protocols for high-risk neuroblastoma (HR-NBL) vary across international studies. The purpose of this study was to evaluate the locoregional control in a national HR-NBL cohort treated with ...
  • Underrepresentation of Women in Cardiovascular Disease Clinical Trials: What’s in a Name? 
    Spiering, Anna E; van Ommen, Anne-Mar; Van Lennep, Jeanine E Roeters; Appelman, Yolande; Reue, Karen; Onland-Moret, N. Charlotte; den Ruijter, Hester (Elsevier, 2024-12)
    Background Cardiovascular disease is the leading cause of death in women worldwide. Yet, women are often underrepresented in cardiovascular clinical trials. Trial characteristics may influence the participation of women. ...
  • Process Evaluations for the Scale-Up of Complex Interventions: a Scoping Review 
    Rathod, Lekha; Heine, Martin; Boateng, Daniel; Martens, Monika; van Olmen, Josefien; Ku, Grace Marie; Klipstein-Grobusch, Kerstin (Igitur, Utrecht Publishing and Archiving Services, 2024-11-08)
    Introduction: Complex health interventions (CHIs) are common in (public) health and social care practice and policy. A process evaluation (PE) is an essential part of designing and testing CHIs and questions what is ...
  • How Clinician-Scientists Access and Mobilise Social Capital and Thus Contribute to the Professional Development of Their Colleagues in Their Networks 
    de Groot, Esther; Brouwer, Jasperina; Baggen, Yvette; Moolenaar, Nienke; Kluijtmans, Manon; Damoiseaux, Roger (2024)
    Clinician-scientists, physicians who conduct research, may fulfil a bridging role in networks of health care researchers and practitioners. Within clinician-scientists' networks, knowledge sharing is thought to play a vital ...
  • Auto-contouring of cardiac substructures for Stereotactic arrhythmia radioablation (STAR): A STOPSTORM.eu consortium study 
    van der Pol, Luuk H G; Blanck, Oliver; Grehn, Melanie; Blazek, Tomáš; Knybel, Lukáš; Balgobind, Brian V; Verhoeff, Joost J C; Miszczyk, Marcin; Blamek, Slawomir; Reichl, Sabrina; Andratschke, Nicolaus; Mehrhof, Felix; Boda-Heggemann, Judit; Tomasik, Bartłomiej; Mandija, Stefano; Fast, Martin F (Elsevier Ireland Ltd, 2025-01)
    BACKGROUND/PURPOSE: High doses to healthy cardiac substructures (CS) in stereotactic arrhythmia radioablation (STAR) raise concerns regarding potential treatment-induced cardio-toxicity. However, CS contours are not routinely ...
  • The effects of standardized cannabis products in healthy volunteers and patients: a systematic literature review 
    Leen, Nadia A; Kowal, Mikael A; Batalla, Albert; Bossong, Matthijs G (Frontiers Media S. A., 2024)
    INTRODUCTION: There is growing recognition of the potential of cannabis to treat various medical conditions and symptoms, such as chronic pain, spasticity, and epilepsy. However, one of the biggest challenges is the assurance ...
  • Brain malformations and seizures by impaired chaperonin function of TRiC 
    Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo (2024-11)
    Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery ...
  • DELirium treatment with Transcranial Electrical Stimulation (DELTES): study protocol for a multicentre, randomised, double-blind, sham-controlled trial 
    van der A, Julia; Lodema, Yorben; Ottens, Thomas H; Schutter, Dennis J L G; Emmelot-Vonk, Marielle H; de Haan, Willem; van Dellen, Edwin; Tendolkar, Indira; Slooter, Arjen J C (BMJ Publishing Group, 2024-11-02)
    Introduction Delirium, a clinical manifestation of acute encephalopathy, is associated with extended hospitalisation, long-term cognitive dysfunction, increased mortality and high healthcare costs. Despite intensive research, ...
  • Experience or perception: What healthcare providers need when using the Utrecht Symptom Diary-4 Dimensional, a mixed-methods study 
    Lormans, Tom; de Graaf, Everlien; Leget, Carlo; Teunissen, Saskia (SAGE Publications Ltd, 2024-10-31)
    BACKGROUND: The Utrecht Symptom Diary-4 Dimensional (USD-4D), an adaptation of the Edmonton Symptom Assessment System, supports healthcare providers (HCPs) in identifying, monitoring, and exploring multidimensional symptoms ...
  • Adaptations in hepatic glucose metabolism after chronic social defeat stress in mice 
    Meijboom, Fabiënne S.; Hasch, Annika; Ruiz de Azua, Inigo; Cologna, Camila Takeno; Loopmans, Shauni; Lutz, Beat; Müller, Marianne B.; Ghesquière, Bart; van der Kooij, Michael A. (Nature Publishing Group, 2024-10-26)
    Chronic stress has been shown to induce hyperglycemia in both peripheral blood and the brain, yet the detailed mechanisms of glucose metabolism under stress remain unclear. Utilizing 13C6-labeled glucose to trace metabolic ...
  • Somatic variant analysis of resected brain tissue in epilepsy surgery patients 
    Sanders, Maurits W.C.B.; Koeleman, Bobby P.C.; Brilstra, Eva H.; Jansen, Floor E.; Baldassari, Sara; Chipaux, Mathilde; Sim, Nam Suk; Ko, Ara; Kang, Hoon Chul; Blümcke, Ingmar; Lal, Dennis; Baulac, Stéphanie; Lee, Jeong Ho; Aronica, Eleonora; Braun, Kees P.J. (Wiley-Blackwell, 2024-12)
    We studied the distribution of germline and somatic variants in epilepsy surgery patients with (suspected) malformations of cortical development (MCD) who underwent surgery between 2015 and 2020 at University Medical Center ...
  • Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 
    Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E.L.M.; Solve-RD Consortium; Laurie, Steven (Nature Publishing Group, 2024-10-26)
    We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having ...