van der Smagt

Assistant Professor - medical

Strategic program(s):

Recent publications

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder Kathleen Rooney, Liselot van der Laan, Slavica Trajkova, Sadegheh Haghshenas, Raissa Relator, Peter Lauffer, Niels Vos, Michael A Levy, Nicola Brunetti-Pierri, Gaetano Terrone, Cyril Mignot, Boris Keren, Thierry Billette de Villemeur, Catharina M L Volker-Touw, Nienke Verbeek, Jasper J van der Smagt, Renske Oegema, Alfredo Brusco, Giovanni Battista Ferrero, Mala Misra-Isrie, Ron Hochstenbach, Mariëlle Alders, Marcel M A M Mannens, Bekim Sadikovic, Mieke M van Haelst, Peter Henneman
Genetics in medicine : official journal of the American College of Medical Genetics, 2023, vol. 25
Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. Van Den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. Van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. Van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. Van Der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. Van Waning, Nicola Whiffin, Arthur Van Den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs Van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter Van Tintelen, Jodie Ingles
Circulation: Genomic and Precision Medicine, 2023, vol. 16, p.E003672
Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia Tessa Noordermeer, Ivar van Asten, Roger E.G. Schutgens, Anke J. Lakerveld, Cornelis A. Koekman, Kay Y. Hage, Silvie A.E. Sebastian, Albert Huisman, Dave J. van den Heuvel, Hans C. Gerritsen, Suzanne J.A. Korporaal, Marc Bierings, Jasper J. van der Smagt, Marielle E. van Gijn, Rolf T. Urbanus
Blood Advances, 2022, vol. 6, p.3347-3351
Genetic testing in interstitial lung disease Michelle Terwiel, Raphael Borie, Bruno Crestani, Liam Galvin, Francesco Bonella, Aurelie Fabre, Antoine Froidure, Matthias Griese, Jan C. Grutters, Kerri Johannson, Caroline Kannengiesser, Leticia Kawano-Dourado, Maria Molina-Molina, Antje Prasse, Elisabetta A. Renzoni, Jasper van der Smagt, Venerino Poletti, Katerina Antoniou, Coline H.M. van Moorsel
Respirology, 2022, vol. 27, p.747-757
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Koen L van Gassen, Jasper J van der Smagt, Catharina M L Volker-Touw, Sjoerd J B Holwerda, Paulien A Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch-Andersen, Wallid Deb, Thomas Besnard, Marleen E H Simon, Karin Huijsdens-van Amsterdam, Nienke E Verbeek, Dena Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koen Devriendt, Anneleen Boogaerts, Marjolein Willemsen, Han G Brunner, Margje Sinnema, Bert B A De Vries, Erica H Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D Krantz, Zhou L Xu, Jill R Murrell, Irene Valenzuela, Ivon Cusco, Eulàlia Rovira-Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frederic Tran-Mau-Them, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, vol. 24, p.1774-1780
European Respiratory Society Statement on Familial Pulmonary Fibrosis Raphael Borie, C Kannengiesser, Katerina Antoniou, Francesco Bonella, Bruno Crestani, Aurélie Fabre, Antoine Froidure, Liam Galvin, Matthias Griese, Jan C Grutters, Maria Molina-Molina, Venerino Poletti, Antje Prasse, Elisabetta Renzoni, Jasper van der Smagt, Coline H M van Moorsel
The European respiratory journal, 2022, vol. 61