Jasper van der Smagt

Assistant Professor - medical

Strategic program(s):

Contact

jsmagt@umcutrecht.nl

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,... Show all

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,... Show all

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... Show all

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,... Show all