van den Boogaard

Assistant Professor - medical

Strategic program(s):

Recent publications

Genetic outcomes in children with developmental language disorder Vivian van Wijngaarden, Hester de Wilde, Dieuwke Mink van der Molen, Jildo Petter, Inge Stegeman, Ellen Gerrits, Adriana L Smit, Marie-José van den Boogaard
Frontiers in Pediatrics, 2024, vol. 12
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Science translational medicine, 2023, vol. 15
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10 Marijn Créton, Frank Wagener, Maarten Massink, Willem Fennis, Marjon Bloemen, Jan Schols, Miranda Aarts, Aebele Mink van der Molen, Gijs van Haaften, Marie José van den Boogaard
American Journal of Medical Genetics, Part A, 2023, vol. 191, p.1083-1088
Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie José van den Boogaard, Erik Boot
Genes, 2023, vol. 14, p.1-11
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands Lisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, Augusta Maria Antonia Lachmeijer, Virginie Johanna Maria Verhoeven, Johanna Maria van Hagen, Malou Heijligers, Jolien Sietske Klein Wassink-Ruiter, Saskia Koene, Saskia Mariska Maas, Hermine Elisabeth Veenstra-Knol, Johannes Kristian Ploos van Amstel, Maarten Pieter Gerrit Massink, Aebele Barber Mink van der Molen, Marie-José Henriette van den Boogaard
Molecular Syndromology, 2023, vol. 14, p.270-282
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder Beau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, Eleanor G Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J Holwerda, Koen van Gassen, Richard H van Jaarsveld
Human mutation, 2022, vol. 43, p.1844-1851