A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Weren, Robbert D A, Ligtenberg, Marjolijn J L, Kets, C Marleen, de Voer, Richarda M, Verwiel, Eugène T P, Spruijt, Liesbeth, van Zelst-Stams, Wendy A G, Jongmans, Marjolijn C, Gilissen, Christian, Hehir-Kwa, Jayne Y, Hoischen, Alexander, Shendure, Jay, Boyle, Evan A, Kamping, Eveline J, Nagtegaal, Iris D, Tops, Bastiaan B J, Nagengast, Fokko M, Geurts van Kessel, Ad, van Krieken, J Han J M, Kuiper, Roland P, Hoogerbrugge, Nicoline
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Journal Article
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
Bergman, J E H, Janssen, N, Hoefsloot, L H, Jongmans, M C J, Hofstra, R M W, van Ravenswaaij-Arts, C M A
Published in Journal of Medical Genetics (01.05.2011)
Published in Journal of Medical Genetics (01.05.2011)
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Journal Article
Book Review
Germ-line and somatic DICER1 mutations in pineoblastoma
de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S., Gottardo, Nicholas G., Kees, Ursula R., Rednam, Surya P., van Hest, Liselotte P., Jongmans, Marjolijn C., Jhangiani, Shalini, Lupski, James R., Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R., Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G., Foulkes, William D.
Published in Acta neuropathologica (01.10.2014)
Published in Acta neuropathologica (01.10.2014)
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Journal Article
Research idea to science for impact: Tracing the significant moments in an innovation based irrigation study
Srinivasan, M.S., Jongmans, C., Bewsell, D., Elley, G.
Published in Agricultural water management (01.02.2019)
Published in Agricultural water management (01.02.2019)
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Journal Article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
van der Tuin, Karin, Tops, Carli M J, Adank, Muriel A, Cobben, Jan-Maarten, Hamdy, Neveen A T, Jongmans, Marjolijn C, Menko, Fred H, van Nesselrooij, Bernadette P M, Netea-Maier, Romana T, Oosterwijk, Jan C, Valk, Gerlof D, Wolffenbuttel, Bruce H R, Hes, Frederik J, Morreau, Hans
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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Journal Article
An Overview of the Protein Binding of Cephalosporins in Human Body Fluids: A Systematic Review
Jongmans, C, Muller, A E, Van Den Broek, P, Cruz De Almeida, B De Melo, Van Den Berg, C, Van Oldenrijk, J, Bos, P K, Koch, B C P
Published in Frontiers in pharmacology (28.06.2022)
Published in Frontiers in pharmacology (28.06.2022)
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Journal Article
Experiences of pediatric cancer patients (age 12-18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
Bon, Sebastian B B, Wouters, Roel H P, Bakhuizen, Jette J, Jongmans, Marjolijn C J, van den Heuvel-Eibrink, Marry M, Grootenhuis, Martha A
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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Journal Article
Predisposition to cancer in children and adolescents
Kratz, Christian P, Jongmans, Marjolijn C, Cavé, Hélène, Wimmer, Katharina, Behjati, Sam, Guerrini-Rousseau, Lea, Milde, Till, Pajtler, Kristian W, Golmard, Lisa, Gauthier-Villars, Marion, Jewell, Rosalyn, Duncan, Catriona, Maher, Eamonn R, Brugieres, Laurence, Pritchard-Jones, Kathy, Bourdeaut, Franck
Published in The lancet child & adolescent health (01.02.2021)
Published in The lancet child & adolescent health (01.02.2021)
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Journal Article
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
Lezzerini, Marco, Penzo, Marianna, O’Donohue, Marie-Françoise, Marques dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W
Published in Nucleic acids research (24.01.2020)
Published in Nucleic acids research (24.01.2020)
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Journal Article
A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia
van Engelen, N., Roest, M., van Dijk, F., Sonneveld, E., Bladergroen, R., van Reijmersdal, S. V., van der Velden, V. H. J., Hoogeveen, P. G., Kors, W. A., Waanders, E., Jongmans, M. C. J., Kuiper, R. P.
Published in Leukemia (05.08.2023)
Published in Leukemia (05.08.2023)
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Journal Article
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia
Jongmans, Marjolijn C J, Diets, Illja J, Quarello, Paola, Garelli, Emanuela, Kuiper, Roland P, Pfundt, Rolph
Published in Haematologica (Roma) (01.12.2018)
Published in Haematologica (Roma) (01.12.2018)
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Journal Article
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature
Hol, J. A., Jongmans, M. C. J., Littooij, A. S., de Krijger, R. R., Kuiper, R. P., van Harssel, J. J. T., Mensenkamp, A., Simons, M., Tytgat, G. A. M., van den Heuvel-Eibrink, M. M., van Grotel, M.
Published in Familial cancer (01.01.2020)
Published in Familial cancer (01.01.2020)
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Journal Article
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group
Hol, Janna A., Jewell, Rosalyn, Chowdhury, Tanzina, Duncan, Catriona, Nakata, Kayo, Oue, Takaharu, Gauthier-Villars, Marion, Littooij, Annemieke S., Kaneko, Yasuhiko, Graf, Norbert, Bourdeaut, Franck, van den Heuvel-Eibrink, Marry M., Pritchard-Jones, Kathy, Maher, Eamonn R., Kratz, Christian P., Jongmans, Marjolijn C.J.
Published in European journal of cancer (1990) (01.08.2021)
Published in European journal of cancer (1990) (01.08.2021)
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Journal Article
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Journal Article
Immunotherapy holds the key to cancer treatment and prevention in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome
Westdorp, Harm, Kolders, Sigrid, Hoogerbrugge, Nicoline, de Vries, I. Jolanda M, Jongmans, Marjolijn C.J, Schreibelt, Gerty
Published in Cancer letters (10.09.2017)
Published in Cancer letters (10.09.2017)
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Journal Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
JONGMANS, Marjolijn C. J, VAN DER BURGT, Ineke, KIEMENEY, Lambertus A. L. M, HOOGERBRUGGE, Nicoline, HOOGERBRUGGE, Peter M, NOORDAM, Kees, YNTEMA, Helger G, NILLESEN, Willy M, KUIPER, Roland P, LIGTENBERG, Marjolijn J. L, VAN KESSEL, Ad Geurts, VAN KRIEKEN, J. Han J. M
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Journal Article
TRIM28 haploinsufficiency predisposes to Wilms tumor
Diets, Illja J., Hoyer, Juliane, Ekici, Arif B., Popp, Bernt, Hoogerbrugge, Nicoline, Reijmersdal, Simon V., Bhaskaran, Rajith, Hadjihannas, Michel, Vasileiou, Georgia, Thiel, Christian T., Seven, Didem, Uebe, Steffen, Ilencikova, Denisa, Waanders, Esmé, Mavinkurve‐Groothuis, Annelies M.C., Roeleveld, Nel, Krijger, Ronald R., Wegert, Jenny, Graf, Norbert, Vokuhl, Christian, Agaimy, Abbas, Gessler, Manfred, Reis, André, Kuiper, Roland P., Jongmans, Marjolijn C.J., Metzler, Markus
Published in International journal of cancer (15.08.2019)
Published in International journal of cancer (15.08.2019)
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Journal Article
Colorectal Adenomas and Cancers After Childhood Cancer Treatment: A DCOG-LATER Record Linkage Study
Teepen, Jop C, Kok, Judith L, van Leeuwen, Flora E, Tissing, Wim J E, Dolsma, Wil V, van der Pal, Helena J, Loonen, Jacqueline J, Bresters, Dorine, Versluys, Birgitta, van den Heuvel-Eibrink, Marry M, van Dulmen-den Broeder, Eline, van den Berg, Marleen H, van der Heiden-van der Loo, Margriet, Hauptmann, Michael, Jongmans, Marjolijn C, Overbeek, Lucy I, van de Vijver, Marc J, Kremer, Leontien C M, Ronckers, Cécile M
Published in JNCI : Journal of the National Cancer Institute (01.07.2018)
Published in JNCI : Journal of the National Cancer Institute (01.07.2018)
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Journal Article
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences
Waanders, E, Scheijen, B, Jongmans, M C J, Venselaar, H, van Reijmersdal, S V, van Dijk, A H A, Pastorczak, A, Weren, R D A, van der Schoot, C E, van de Vorst, M, Sonneveld, E, Hoogerbrugge, N, van der Velden, V H J, Gruhn, B, Hoogerbrugge, P M, van Dongen, J J M, Geurts van Kessel, A, van Leeuwen, F N, Kuiper, R P
Published in Leukemia (01.04.2017)
Published in Leukemia (01.04.2017)
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Journal Article
Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization
Roy, Prakriti, van Peer, Sophie E, de Witte, Martin M, Tytgat, Godelieve A M, Karim-Kos, Henrike E, van Grotel, Martine, van de Ven, Cees P, Mavinkurve-Groothuis, Annelies M C, Merks, Johannes H M, Kuiper, Roland P, Hol, Janna A, Janssens, Geert O R, de Krijger, Ronald R, Jongmans, Marjolijn C J, Drost, Jarno, van der Steeg, Alida F W, Littooij, Annemieke S, Wijnen, Marc H W A, van Tinteren, Harm, van den Heuvel-Eibrink, Marry M
Published in PloS one (13.01.2022)
Published in PloS one (13.01.2022)
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