Marjolijn Jongmans

Associate Professor - medical

Strategic program(s):

Contact

mjongma3@umcutrecht.nl

Pure profile

Recent publications

All publications

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping N van Engelen, H M van Santen, F van Dijk, M M Kleisman, J H M Merks, A Y N Schouten-van Meeteren, E J Kamping, K Neveling, A Hoischen, M C J Jongmans, R P Kuiper
Orphanet Journal of Rare Diseases, 2025, vol. 20

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes Sharon E Johnatty, Emma Tudini, Michael T Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil Canson, Aimee L Davidson, Tamar Berger, Rasim Ozgur Rosti, Christian P Kratz, Reinhard Kalb, Lisa J McReynolds, Neelam Giri, Marcy Richardson, Tina Pesaran, Jordi Surrallés, Roser Pujol, Babu Rao Vundinti, Merin George, Kara N Maxwell, Kate Nathanson, Susan Domchek, Moisés Ó Fiesco-Roa, Sara Frias, Benilde Garcia-de-Teresa, Marjolijn Jongmans, Seema Lalani, Merel Maiburg, Katrina Prescott, Rachel Robinson, Sulekha Rajagopalan, Lot Snijders Blok, Suzanna E L Temple, Kathy Tucker, Arleen D Auerbach, Maria I Cancio, Jennifer A Kennedy, Margaret L MacMillan, Rebecca Tryon, John E Wagner, Michael Walsh, Nicholas J Boddicker, Chunling Hu, Jeffrey N Weitzel, Alexander J M Dingemans, Johanna Hadler, Nitsan Rotenberg, Lobna Ramadane-Morchadi, Miguel de la Hoya, Paul James, Thomas Van Overeem Hansen, Maaike P G Vreeswijk, Logan C Walker, Shyam K Sharan, Douglas F Easton, Fergus Couch, Agata Smogorzewska, Adam Nelson, Joanne Ngeow, Marc Tischkowitz, Encarnacion Gomez-Garcia, Amanda B Spurdle
2025, p.1-52

Exploring germline variants in genes associated with inborn errors of immunity and inherited bone marrow failure syndromes in pediatric hematological malignancies Jette J. Bakhuizen, Freerk van Dijk, Sebastian B.B. Bon, Lars T. van der Veken, Manon M.H. Huibers, Joris M. van Montfrans, Marieke De Bruyne, Barbara De Moerloose, Filomeen Haerynck, Jan L.C. Loeffen, Tim Lammens, Roland P. Kuiper, Marjolijn C.J. Jongmans, Delfien J.A. Bogaert
European Journal of Cancer, 2025, vol. 226

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant Nienke van Engelen, Ronald R de Krijger, Michelle M Kleisman, Lennart A Kester, Saskia M J Hopman, Mariette E G Kranendonk, Marijn A Vermeulen, Carli Tops, Seok-Young Kim, Hans Clevers, Kornelia Neveling, Roland P Kuiper, Marjolijn C J Jongmans
Pediatric Blood & Cancer, 2025, vol. 72

Wilms tumor characteristics in children with heterozygous germline DIS3L2 variants S E van Peer, T D Treger, J Wegert, J A Hol, J Le Gall, E E Jakkula, J Kamihara, E A Mullen, N Graf, S Behjati, R Al-Saadi, C Duncan, J Schienda, R de Putter, J Brzezinski, A Verschuur, O Michaeli, M V Ortiz, J C Herkert, R Armstrong, E Waanders, R P Kuiper, M M van den Heuvel-Eibrink, M Gessler, M C J Jongmans
Genetics in medicine : official journal of the American College of Medical Genetics, 2025, vol. 27

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency Dilys D Weijers, Snežana Hinić, Emma Kroeze, Mark Aj Gorris, Gerty Schreibelt, Sjors Middelkamp, Arjen R Mensenkamp, Reno Bladergroen, Kiek Verrijp, Nicoline Hoogerbrugge, Pieter Wesseling, Rachel S van der Post, Jan Lc Loeffen, Corrie Em Gidding, Mariëtte Ca van Kouwen, I Jolanda M de Vries, Ruben van Boxtel, Richarda M de Voer, Marjolijn Cj Jongmans, Roland P Kuiper
Nature Communications, 2025, vol. 16