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  • Fetal indusium griseum is a possible biomarker of the regularity of brain midline development in 3T MR imaging: A retrospective observational study 
    Pogledic, Ivana; Bobić-Rasonja, Mihaela; Mitter, Christian; Štajduhar, Andrija; Schwartz, Ernst; Milković-Periša, Marija; Baltzer, Pascal A; Lequin, Maarten; Krampl-Bettelheim, Elisabeth; Kasprian, Gregor; Judaš, Miloš; Prayer, Daniela; Jovanov-Milosevic, Natasa (Wiley-Blackwell, 2024-05)
    INTRODUCTION: This study aimed to assess the visibility of the indusium griseum (IG) in magnetic resonance (MR) scans of the human fetal brain and to evaluate its reliability as an imaging biomarker of the normality of ...
  • The impact of unilateral pulmonary artery stenosis on right ventricular to pulmonary arterial coupling in patients with transposition of the great arteries 
    Joosen, Renée S.; Voskuil, Michiel; Krings, Gregor J.; Handoko, M. Louis; Dickinson, Michael G.; van de Veerdonk, Marielle C.; Breur, Johannes M.P.J. (Wiley-Liss Inc., 2024-05-01)
    Background: Unilateral pulmonary artery (PA) stenosis is common in the transposition of the great arteries (TGA) after arterial switch operation (ASO) but the effects on the right ventricle (RV) remain unclear. Aims: To ...
  • Author Correction: A joint international consensus statement for measuring quality of survival for patients with childhood cancer (Nature Medicine, (2023), 29, 6, (1340-1348), 10.1038/s41591-023-02339-y) 
    the International Childhood Cancer Outcome Project participants (Nature Publishing Group, 2023-12-13)
    Correction to: Nature Medicine, published online 15 June 2023. In the version of the article initially published, the surname of Andishe Attarbaschi was misspelled (Atterbaschi) and has now been corrected in the HTML and ...
  • Genetic landscape of pediatric acute liver failure of indeterminate origin 
    Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kırsaçlıoğlu, Ceyda Tuna; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McLean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg Friedrich; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger (John Wiley and Sons Ltd, 2024-05-01)
    BACKGROUND AND AIMS: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%-16%) and inherited metabolic diseases (14%-28%). Yet, in up to 50% of cases ...
  • The cumulative burden of self-reported, clinically relevant outcomes in long-term childhood cancer survivors and implications for survivorship care: A DCCSS LATER study 
    Streefkerk, Nina; Teepen, Jop C.; Feijen, Elizabeth A.M.; Jóźwiak, Katarzyna; van der Pal, Helena J.H.; Ronckers, Cecile M.; De Vries, Andrica C.H.; Van der Heiden-van Der Loo, Margriet; Hollema, Nynke; van den Berg, Marleen; Loonen, Jacqueline; Grootenhuis, Martha A.; Bresters, Dorine; Versluys, A. Brigitta; van Dulmen-den Broeder, Eline; van den Heuvel-Eibrink, Marry M.; van Leeuwen, Flora E.; Neggers, Sebastian J.C.M.M.; Van Santen, Hanneke M.; Hawkins, Mike; Hauptmann, Michael; Yoneoka, Daisuke; Korevaar, Joke C.; Tissing, Wim J.E.; Kremer, Leontien C.M. (John Wiley and Sons Inc., 2024-04-15)
    Background: The aim of this study is to evaluate how cumulative burden of clinically relevant, self-reported outcomes in childhood cancer survivors (CCSs) compares to a sibling control group and to explore how the burden ...
  • External validation of the RSNA 2020 pulmonary embolism detection challenge winning deep learning algorithm 
    Langius-Wiffen, Eline; Slotman, Derk J.; Groeneveld, Jorik; AC van Osch, Jochen; Nijholt, Ingrid M.; de Boer, Erwin; Nijboer-Oosterveld, Jacqueline; Veldhuis, Wouter B.; de Jong, Pim A.; Boomsma, Martijn F. (Elsevier Ireland Ltd, 2024-04)
    Purpose: To evaluate the diagnostic performance and generalizability of the winning DL algorithm of the RSNA 2020 PE detection challenge to a local population using CTPA data from two hospitals. Materials and Methods: ...
  • Healthcare Resource Utilization and Cost-of-Illness in Systemic Light Chain (AL) Amyloidosis in Europe: Results From the Real-World, Retrospective EMN23 Study 
    Jaccard, Arnaud; Bridoux, Frank; Roeloffzen, Wilfried; Minnema, Monique C; Bergantim, Rui; Hájek, Roman; João, Cristina; Cibeira, M Teresa; Palladini, Giovanni; Schönland, Stefan; Merlini, Giampaolo; Milani, Paolo; Dimopoulos, Meletios A; Ravichandran, Sriram; Hegenbart, Ute; Agis, Hermine; Gros, Blanca; Asra, Aisha; Magarotto, Valeria; Cheliotis, Giorgos; Psarros, Giorgos; Sonneveld, Pieter; Wechalekar, Ashutosh; Kastritis, Efstathios (Cancer Media Group, 2024-05)
    OBJECTIVES: To report healthcare resource utilization (HCRU) and safety outcomes in systemic light chain (AL) amyloidosis from the EMN23 study. MATERIALS AND METHODS: The retrospective, observational, multinational EMN23 ...
  • Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1) 
    Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S. (Nature Publishing Group, 2024-01)
    Correction to: European Journal of Human Genetics (2021) 29:1186–1197 The following Acknowledgement was missing: This research has been supported not financially by “European Reference Network for Rare Kidney Disease, ...
  • Deep Learning Approaches Applied to Image Classification of Renal Tumors: A Systematic Review 
    Amador, Sandra; Beuschlein, Felix; Chauhan, Vedant; Favier, Judith; Gil, David; Greenwood, Phillip; de Krijger, R. R.; Kroiss, Matthias; Ortuño-Miquel, Samanta; Patocs, Attila; Stell, Anthony; Walch, Axel (Springer Netherlands, 2024-03)
    Renal cancer is one of the ten most common cancers in the population that affects 65,000 new patients a year. Nowadays, to predict pathologies or classify tumors, deep learning (DL) methods are effective in addition to ...
  • Predictability of human exposure by human-CYP3A4-transgenic mouse models: A meta-analysis 
    Damoiseaux, David; Schinkel, Alfred H; Beijnen, Jos H; Huitema, Alwin D R; Dorlo, Thomas P C (Wiley-Blackwell Publishing Ltd, 2024-01)
    First-in-human dose predictions are primarily based on no-observed-adverse-effect levels in animal studies. Predictions from these animal models are only as effective as their ability to predict human results. To narrow ...
  • Integrative analysis of neuroblastoma by single-cell RNA sequencing identifies the NECTIN2-TIGIT axis as a target for immunotherapy 
    Wienke, Judith; Visser, Lindy L; Kholosy, Waleed M; Keller, Kaylee M; Barisa, Marta; Poon, Evon; Munnings-Tomes, Sophie; Himsworth, Courtney; Calton, Elizabeth; Rodriguez, Ana; Bernardi, Ronald; van den Ham, Femke; van Hooff, Sander R; Matser, Yvette A H; Tas, Michelle L; Langenberg, Karin P S; Lijnzaad, Philip; Borst, Anne L; Zappa, Elisa; Bergsma, Francisca J; Strijker, Josephine G M; Verhoeven, Bronte M; Mei, Shenglin; Kramdi, Amira; Restuadi, Restuadi; Sanchez-Bernabeu, Alvaro; Cornel, Annelisa M; Holstege, Frank C P; Gray, Juliet C; Tytgat, Godelieve A M; Scheijde-Vermeulen, Marijn A; Wijnen, Marc H W A; Dierselhuis, Miranda P; Straathof, Karin; Behjati, Sam; Wu, Wei; Heck, Albert J R; Koster, Jan; Nierkens, Stefan; Janoueix-Lerosey, Isabelle; de Krijger, Ronald R; Baryawno, Ninib; Chesler, Louis; Anderson, John; Caron, Hubert N; Margaritis, Thanasis; van Noesel, Max M; Molenaar, Jan J (Cell Press, 2024-02-12)
    Pediatric patients with high-risk neuroblastoma have poor survival rates and urgently need more effective treatment options with less side effects. Since novel and improved immunotherapies may fill this need, we dissect ...
  • FOXO transcription factors as mediators of stress adaptation 
    Rodriguez-Colman, Maria J.; Dansen, Tobias B.; Burgering, Boudewijn M.T. (Nature Publishing Group, 2024-01)
    The forkhead box protein O (FOXO, consisting of FOXO1, FOXO3, FOXO4 and FOXO6) transcription factors are the mammalian orthologues of Caenorhabditis elegans DAF-16, which gained notoriety for its capability to double ...
  • The extracellular matrix as hallmark of cancer and metastasis: From biomechanics to therapeutic targets 
    Sleeboom, Jelle J.F.; van Tienderen, Gilles S.; Schenke-Layland, Katja; van der Laan, Luc J.W.; Khalil, Antoine A.; Verstegen, Monique M.A. (American Association for the Advancement of Science, 2024-01-03)
    The extracellular matrix (ECM) is essential for cell support during homeostasis and plays a critical role in cancer. Although research often concentrates on the tumor’s cellular aspect, attention is growing for the importance ...
  • Astroglial calcium signaling and homeostasis in tuberous sclerosis complex 
    Romagnolo, Alessia; Dematteis, Giulia; Scheper, Mirte; Luinenburg, Mark J; Mühlebner, Angelika; Van Hecke, Wim; Manfredi, Marcello; De Giorgis, Veronica; Reano, Simone; Filigheddu, Nicoletta; Bortolotto, Valeria; Tapella, Laura; Anink, Jasper J; François, Liesbeth; Dedeurwaerdere, Stefanie; Mills, James D; Genazzani, Armando A; Lim, Dmitry; Aronica, Eleonora (Springer, 2024-02-28)
    Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain, and is often accompanied by epilepsy, neurodevelopmental comorbidities ...
  • Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy 
    Kiewiet, Gea; Westra, Dineke; de Boer, Eddy N; van Berkel, Emma; Hofste, Tom G J; van Zweeden, Martine; Derks, Ronny C; Leijsten, Nico F A; Ruiterkamp-Versteeg, Martina H A; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J; de Sain-van der Velden, Monique G M; Voorhoeve, Els; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel (Multidisciplinary Digital Publishing Institute, 2024-03-07)
    In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted ...
  • Rapid autopsies to enhance metastatic research: the UPTIDER post-mortem tissue donation program 
    Geukens, Tatjana; De Schepper, Maxim; Van Den Bogaert, Wouter; Van Baelen, Karen; Maetens, Marion; Pabba, Anirudh; Mahdami, Amena; Leduc, Sophia; Isnaldi, Edoardo; Nguyen, Ha-Linh; Bachir, Imane; Hajipirloo, Maysam; Zels, Gitte; Van Cauwenberge, Josephine; Borremans, Kristien; Vandecaveye, Vincent; Weynand, Birgit; Vermeulen, Peter; Leucci, Eleonora; Baietti, Maria Francesca; Sflomos, George; Battista, Laura; Brisken, Cathrin; Derksen, Patrick W B; Koorman, Thijs; Visser, Daan; Scheele, Colinda L G J; Thommen, Daniela S; Hatse, Sigrid; Fendt, Sarah-Maria; Vanderheyden, Evy; Van Brussel, Thomas; Schepers, Rogier; Boeckx, Bram; Lambrechts, Diether; Marano, Giuseppe; Biganzoli, Elia; Smeets, Ann; Nevelsteen, Ines; Punie, Kevin; Neven, Patrick; Wildiers, Hans; Richard, François; Floris, Giuseppe; Desmedt, Christine (Elsevier, 2024-04-24)
    Research on metastatic cancer has been hampered by limited sample availability. Here we present the breast cancer post-mortem tissue donation program UPTIDER and show how it enabled sampling of a median of 31 (range: 5-90) ...
  • One Health surveillance of colistin-resistant Enterobacterales in Belgium and the Netherlands between 2017 and 2019 
    i-4-1-Health Study Group (Public Library of Science, 2024-02)
    Background Colistin serves as the last line of defense against multidrug resistant Gram-negative bacterial infections in both human and veterinary medicine. This study aimed to investigate the occurrence and spread of ...
  • Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy 
    Gasperetti, Alessio; Carrick, Richard; Protonotarios, Alexandros; Laredo, Mikael; van der Schaaf, Iris; Syrris, Petros; Murray, Brittney; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Crabtree, Peter; Saguner, Ardan M.; Duru, Firat; Hylind, Robyn; Abrams, Dominic; Lakdawala, Neal K.; Massie, Charles; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S.; Prasad, Sanjay; Calò, Leonardo; Smith, Eric; Helms, Adam; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Mestroni, Luisa; Wilde, Arthur; Merlo, Marco; Gandjbakhch, Estelle; Calkins, Hugh; te Riele, Anneline S.J.M.; Peter van Tintelen, J.; Elliot, Perry; James, Cynthia A. (2024-03)
    Background: Patients with likely pathogenic/pathogenic desmoplakin (DSP) variants are poorly characterized. Some of them meet diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC), but it is unclear ...
  • Identification of gene regulatory networks affected across drug-resistant epilepsies 
    François, Liesbeth; Romagnolo, Alessia; Luinenburg, Mark J; Anink, Jasper J; Godard, Patrice; Rajman, Marek; van Eyll, Jonathan; Mühlebner, Angelika; Skelton, Andrew; Mills, James D; Dedeurwaerdere, Stefanie; Aronica, Eleonora (Nature Publishing Group, 2024-12)
    Epilepsy is a chronic and heterogenous disease characterized by recurrent unprovoked seizures, that are commonly resistant to antiseizure medications. This study applies a transcriptome network-based approach across ...
  • Human IgG Fc-engineering for enhanced plasma half-life, mucosal distribution and killing of cancer cells and bacteria 
    Foss, Stian; Sakya, Siri A; Aguinagalde, Leire; Lustig, Marta; Shaughnessy, Jutamas; Cruz, Ana Rita; Scheepmaker, Lisette; Mathiesen, Line; Ruso-Julve, Fulgencio; Anthi, Aina Karen; Gjølberg, Torleif Tollefsrud; Mester, Simone; Bern, Malin; Evers, Mitchell; Bratlie, Diane B; Michaelsen, Terje E; Schlothauer, Tilman; Sok, Devin; Bhattacharya, Jayanta; Leusen, Jeanette; Valerius, Thomas; Ram, Sanjay; Rooijakkers, Suzan H M; Sandlie, Inger; Andersen, Jan Terje (Nature Publishing Group, 2024-12)
    Monoclonal IgG antibodies constitute the fastest growing class of therapeutics. Thus, there is an intense interest to design more potent antibody formats, where long plasma half-life is a commercially competitive differentiator ...