Hopman

Assistant Professor - medical

Recent publications

ARID1B-related disorder in 87 adults P. J. van der Sluijs, M. Gösgens, A. J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S. A. Schrier Vergano, M. Alders, F. S. Alkuraya, I. Alorainy, H. S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B. W. van Bon, T. Brunet, H. Brunner, M. L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R. K. Earl, E. E. Eichler, L. Faivre, N. Foulds, C. Graziano, A. M. Guerrot, M. O. Hashem, S. Heide, D. Heron, S. E. Hickey, S. M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J. S. Klein Wassink-Ruiter, E. C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G. S. Leszinski, L. Loberti, P. L. Magoulas, F. Mari, I. Maystadt, G. Merla, J. M. Milunsky, S. Moortgat, G. Nicolas, M. O.’. Leary, S. Odent, J. R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A. M. Pinto, B. Popp, A. Putoux, H. L. Rehm, A. Reis, A. Renieri, J. A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F. M. Sonmez, G. Strobl-Wildemann, K. E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B. B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K. R. Heitink, F. G. Ropers, D. Steenbeek, T. Rybak, G. W.E. Santen
Genetics in Medicine Open, 2024, vol. 2
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer Jette J. Bakhuizen, Freerk van Dijk, Marco J. Koudijs, Reno S. Bladergroen, Sebastian B.B. Bon, Saskia M.J. Hopman, Lennart A. Kester, Mariëtte E.G. Kranendonk, Jan L.C. Loeffen, Stephanie E. Smetsers, Edwin Sonneveld, Melissa Tachdjian, Evelien de Vos-Kerkhof, Catherine Goudie, Johannes H.M. Merks, Roland P. Kuiper, Marjolijn C.J. Jongmans
The Lancet Child and Adolescent Health, 2024, vol. 8, p.751-761
Medulloblastomas with ELP1 pathogenic variants Léa Guerrini-Rousseau, Julien Masliah-Planchon, Mathilde Filser, Arnault Tauziède-Espariat, Natacha Entz-Werle, Christine M. Maugard, Saskia M.J. Hopman, Jacob Torrejon, Marion Gauthier-Villars, Fatoumata Simaga, Thomas Blauwblomme, Kevin Beccaria, Etienne Rouleau, Marina Dimaria, Jacques Grill, Samuel Abbou, Béatrice Claret, Laurence Brugières, François Doz, Yassine Bouchoucha, Cécile Faure-Conter, Valerie Bonadona, Ludovic Mansuy, Emilie De Carli, Olivier Ingster, Clémentine Legrand, Anne Pagnier, Pascaline Berthet, Damien Bodet, Sophie Julia, Anne Isabelle Bertozzi, Marjolaine Wilems, Claude Alain Maurage, Olivier Delattre, Olivier Ayrault, Christelle Dufour, Franck Bourdeaut
Neuro-oncology advances, 2024, vol. 6
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation Jette J. Bakhuizen, Floor A.M. Postema, Rick R. van Rijn, Joost van Schuppen, Floor A.M. Duijkers, Carel J.M. van Noesel, Raoul C. Hennekam, Marjolijn C.J. Jongmans, C. Dilara Savci-Heijink, Stephanie E. Smetsers, Suzanne W.J. Terheggen-Lagro, Saskia M.J. Hopman, Matthijs W.N. Oomen, Johannes H.M. Merks
Journal of Pediatric Surgery, 2024, vol. 59, p.459-463
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm Jette J. Bakhuizen, Saskia M.J. Hopman, Machteld I. Bosscha, Charlotte J. Dommering, Marry M. van den Heuvel-Eibrink, Janna A. Hol, Lennart A. Kester, Marco J. Koudijs, Karin P.S. Langenberg, Jan L.C. Loeffen, Jasper van der Lugt, Annette C. Moll, Max M. van Noesel, Stephanie E. Smetsers, Evelien de Vos-Kerkhof, Johannes H.M. Merks, Roland P. Kuiper, Marjolijn C.J. Jongmans
JAMA network open, 2023, vol. 6, p.1-8
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J Prijoles, Roger E Stevenson, David B Everman, Wesley G Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B Sousa, Pedro M Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J Smits, Livia Garavelli, Stefano G Caraffi, Francesca Peluso, Daniëlle G M Bosch,
American Journal of Human Genetics, 2023, vol. 110, p.963-978