Bert van der Zwaag

Research Analyst

Recent publications

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Marketa Vlckova, Sarka Bendova, Kristin G Monaghan, Lisa M Dyer, Yanmin Chen, Deanna Alexis Carere, Emma A M Te Bogt, Heather Fisher, Angela E Scheuerle, Stephanie Riley, Mahim Jain, Weiyi Mu, Joann N Bodurtha, Albertien M van Eerde, Marijn F Stokman, Nicola Longo, Meena Balasubramanian, Michael Spiller, Gregory Costain, Charlotte von der Lippe, Kristian Tveten, Marianne Jortveit, Øystein L Holla, Bertrand Isidor, Benjamin Cogné, Kevin E Glinton, Blake Vuocolo, Roberta Ann Sierra, Brad Angle, Kelly Bontempo, Klaas Koop, Rachel Rabin, John Pappas, David A Staffenberg, Pascal Joset, Peter Miny, Isabel Filges, Abdulrazak Alali, Kara Vitalone, Jill A Rosenfeld, Weimin Bi, Samuel Bradbrook, Renee Perrier, Subhadra Ramanathan, June-Anne Gold, María Palomares Bralo, María Ángeles Gómez-Cano, Ann Haskins Olney, Shelly Nielsen, Alban Ziegler, Dominique Bonneau, Clément Prouteau, Ange-Line Bruel, Charlotte Caille-Benigni, Laëtitia Lambert, Andrea C Yu, Nathaniel H Robin, Dana Goodloe, Jan Fischer, Joseph Porrmann, Yvonne D Hennig, Rami Abou Jamra, Isabella Herman, Ivy R Johnson, Lucas Hérissant, Guillaume Jouret, Koen L I van Gassen, Ellen van Binsbergen, Bert van der Zwaag, Alwin Kamermans, Renske Oegema, Zdenek Sedlacek, Michaela Fenckova, Richard H van Jaarsveld
Genetics in medicine : official journal of the American College of Medical Genetics, 2025, vol. 27
LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics Irena J.J. Muffels, Theodore Carter, Holger Rehmann, Sebastiaan J. Vastert, Annemarie A. Verrijn Stuart, Andreas C. Blank, Aurore Garde, Bert van der Zwaag, Iris M. De Lange, Jacques C. Giltay, Koen L.I. van Gassen, Klaas Koop, Cedric S. Asensio, Peter M. van Hasselt
iScience, 2025, vol. 28
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D'Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt
iScience, 2025, vol. 28
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout J Hoorn, Joris I Rotmans, Gijs Fortrie, Roos F J Marsman, Tonia C Rothuizen, H Siebe Spijker, Laura R Claus, Constantijn J A M Konings, Femke Waanders, Joan Doornebal, Andrea B Kramer, Aaltje Y Adema, Bert van der Zwaag, Albertien M van Eerde, Nine V A M Knoers, Martin H de Borst
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2024, vol. 40, p.1225-1233
Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes Sophie E. van Peer, Roland P. Kuiper, Janna A. Hol, Sanne Egging, Bert van der Zwaag, Marc R. Lilien, M. Paola Lombardi, Marry M. van den Heuvel-Eibrink, Marjolijn C.J. Jongmans
Kidney International Reports, 2024, vol. 9, p.3570-3579
GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update Laura R. Claus, Iris Lekkerkerker, Bert van der Zwaag, Tri Q. Nguyen, Nine V.A.M. Knoers, Martin H. de Borst, Maarten B. Rookmaker, Marc R. Lilien, Albertien M. van Eerde
Rare, 2024, vol. 2