Jasper van der Smagt

Assistant Professor - medical

Strategic program(s):

Recent publications

A rare triplication of 16p11.2 Liselot van der Laan, Lotte Kleinendorst, Martin A Haagmans, Laura Roquas, Jasper J van der Smagt, Klaas Koop, Peter Henneman, Mieke M van Haelst
European Journal of Medical Genetics, 2025, vol. 75
Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants Marike W. van Gisbergen, S. Vanya J. Rossel, Tom E.J. Theunissen, Renske Janssen, Tariraishe Kaseke, Jasper J. van der Smagt, Peter M. Steijlen, Maaike Vreeburg, Antoni H. Gostynski, Michel van Geel
British Journal of Dermatology, 2025, vol. 192, p.544-546
CUL3-related neurodevelopmental disorder Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Saskia Hopman, Johanna C. Herkert, Ron Hochstenbach, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Human Genetics and Genomics Advances, 2025, vol. 6
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