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
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
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
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort
Janna A. Hol, Roland P. Kuiper, Freerk Van Dijk, Esmé Waanders, Sophie E. Van Peer, Marco J. Koudijs, Reno Bladergroen, Simon V. Van Reijmersdal, Lionel M. Morgado, Jet Bliek, Maria Paola Lombardi, Saskia Hopman, Jarno Drost, Ronald R. De Krijger, Marry M. Van Den Heuvel-Eibrink, Marjolijn C.J. Jongmans
Journal of Clinical Oncology, 2022, vol. 40, p.1892-1902
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C Caylor, Andrea Ciolfi, Ton A J van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A Levy, M E Suzanne Lewis, Angie Lichty, Marcel M A M Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A Walsh, Keren Yosovich, Christopher J Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, vol. 25, p.49-62
