Jasper van der Smagt

Assistant Professor - medical

Strategic program(s):

Recent publications

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome Claudio Peter D’Incal, Dale John Annear, Ellen Elinck, Jasper J. van der Smagt, Mariëlle Alders, Alexander J.M. Dingemans, Ligia Mateiu, Bert B.A. de Vries, Wim Vanden Berghe, R. Frank Kooy
European Journal of Human Genetics, 2024, vol. 32, p.630-638
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases Jennifer Kerkhof, Cassandra Rastin, Michael A. Levy, Raissa Relator, Haley McConkey, Leigh Demain, Elena Dominguez-Garrido, Laura Donker Kaat, Sofia Douzgou Houge, Barbara R. DuPont, Timothy Fee, Robin S. Fletcher, David Gokhale, Bjørn Ivar Haukanes, Peter Henneman, Sarah Hilton, Benjamin A. Hilton, Sarah Jenkinson, Jennifer A. Lee, Raymond J. Louie, M. Mahdi Motazacker, Jessica Rzasa, Roger E. Stevenson, Astrid Plomp, Liselot van der Laan, Jasper van der Smagt, Kellie K. Walden, Siddharth Banka, Marcel Mannens, Steven A. Skinner, Michael J. Friez, Christopher Campbell, Matthew L. Tedder, Marielle Alders, Bekim Sadikovic
Genetics in Medicine, 2024, vol. 26
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants Soha Sewani, Mahshid S. Azamian, Bryce A. Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J. van der Smagt, Joseph J. Shen, Amelle Shillington, Lori White, Houda Zghal Elloumi, Peter R. Baker, Shayna Svihovec, Kathleen Brown, Yvonne Koopman-Keemink, Mariette J.V. Hoffer, Inge M.M. Lakeman, Elise Brischoux-Boucher, Maria Kinali, Xiaonan Zhao, Seema R. Lalani, Daryl A. Scott
American Journal of Medical Genetics, Part A, 2024, vol. 194
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions Hashem Almousa, Sara A. Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A. Heim, Patricia Cornejo, Maha S. Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E. Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao Ru Yang, Abolfazl Heidari, Koen Van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange Line Bruel, Hoda Tomoum, Mennatallah O. Shata, Mais O. Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper Van Der Smagt, Alya Qari, John B. Vincent, A. Micheil Innes, Ali Dursun, R. Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon Van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C. Kruer
Brain, 2024, vol. 147, p.311-324
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey Jasper J. van der Smagt, Angeliki P. Lampri, Iris de Lange, Mariëlle Alders, Michiel L. Houben, Marco J. Koudijs, Richard H. van Jaarsveld
European Journal of Medical Genetics, 2024, vol. 69
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