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Parents' experiences with large-scale sequencing for genetic predisposition in pediatric renal cancer: A qualitative study.
Published in:
Psycho-Oncology, 2022, v. 31, n. 10, p. 1692, doi. 10.1002/pon.6016
By:
- Bon, Sebastian B. B.;
- Wouters, Roel H. P.;
- Hol, Janna A.;
- Jongmans, Marjolijn C. J.;
- van den Heuvel‐Eibrink, Marry M.;
- Grootenhuis, Martha A.;
- van den Heuvel-Eibrink, Marry M
Publication type:
Article
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
Published in:
Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
By:
- Sabatella, Mariangela;
- Mantere, Tuomo;
- Waanders, Esmé;
- Neveling, Kornelia;
- Mensenkamp, Arjen R;
- van Dijk, Freerk;
- Hehir‐Kwa, Jayne Y;
- Derks, Ronnie;
- Kwint, Michael;
- O'Gorman, Luke;
- Tropa Martins, Madalena;
- Gidding, Corrie EM;
- Lequin, Maarten H;
- Küsters, Benno;
- Wesseling, Pieter;
- Nelen, Marcel;
- Biegel, Jacklyn A;
- Hoischen, Alexander;
- Jongmans, Marjolijn C;
- Kuiper, Roland P
Publication type:
Article
TRIM28 variants and Wilms' tumour predisposition.
Published in:
Journal of Pathology, 2021, v. 254, n. 4, p. 494, doi. 10.1002/path.5639
By:
- Hol, Janna A.;
- Diets, Illja J.;
- de Krijger, Ronald R.;
- van den Heuvel-Eibrink, Marry M.;
- Jongmans, Marjolijn C. J.;
- Kuiper, Roland P.
Publication type:
Article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
By:
- Vos, Niels;
- Haghshenas, Sadegheh;
- van der Laan, Liselot;
- Russel, Perle K. M.;
- Rooney, Kathleen;
- Levy, Michael A.;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Maas, Saskia M.;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.;
- Pfundt, Rolph;
- Elting, Mariet W.;
- van Hagen, Johanna M.;
- Verbeek, Nienke E.;
- Jongmans, Marjolijn C. J.;
- Lakeman, Phillis;
- Rumping, Lynne;
- Bosch, Danielle G. M.
Publication type:
Article
TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
Published in:
eLife, 2020, p. 1, doi. 10.7554/eLife.61235
By:
- Schmutz, Isabelle;
- Mensenkamp, Arjen R.;
- Takai, Kaori K.;
- Haadsma, Maaike;
- Spruijt, Liesbeth;
- de Voer, Richarda M.;
- Choo, Seunga Sara;
- Lorbeer, Franziska K.;
- van Grinsven, Emma J.;
- Hockemeyer, Dirk;
- Jongmans, Marjolijn C. J.;
- de Lange, Titia
Publication type:
Article
Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells.
Published in:
Nucleic Acids Research, 2016, v. 44, n. 21, p. 10386, doi. 10.1093/nar/gkw859
By:
- Rank, Lisa;
- Veith, Sebastian;
- Gwosch, Eva C.;
- Demgenski, Janine;
- Ganz, Magdalena;
- Jongmans, Marjolijn C.;
- Vogel, Christopher;
- Fischbach, Arthur;
- Buerger, Stefanie;
- Fischer, Jan M. F.;
- Zubel, Tabea;
- Stier, Anna;
- Renner, Christina;
- Schmalz, Michael;
- Beneke, Sascha;
- Groettrup, Marcus;
- Kuiper, Roland P.;
- Bürkle, Alexander;
- Ferrando-May, Elisa;
- Mangerich, Aswin
Publication type:
Article
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Published in:
Nature Genetics, 2015, v. 47, n. 6, p. 668, doi. 10.1038/ng.3287
By:
- Weren, Robbert D A;
- 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;
- Kamping, Eveline J;
- Geurts van Kessel, Ad;
- Kuiper, Roland P;
- Hoogerbrugge, Nicoline;
- Ligtenberg, Marjolijn J L;
- Shendure, Jay;
- Boyle, Evan A;
- Nagtegaal, Iris D;
- Tops, Bastiaan B J;
- van Krieken, J Han J M
Publication type:
Article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
Published in:
2017
By:
- 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
Publication type:
journal article
Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 23, p. 5558, doi. 10.3390/jcm10235558
By:
- van Peer, Sophie E.;
- Hol, Janna A.;
- van der Steeg, Alida F. W.;
- Grotel, Martine van;
- Tytgat, Godelieve A. M.;
- Mavinkurve-Groothuis, Annelies M. C.;
- Janssens, Geert O. R.;
- Littooij, Annemieke S.;
- de Krijger, Ronald R.;
- Jongmans, Marjolijn C. J.;
- Lilien, Marc R.;
- Drost, Jarno;
- Kuiper, Roland P.;
- van Tinteren, Harm;
- Wijnen, Marc H. W. A.;
- van den Heuvel-Eibrink, Marry M.
Publication type:
Article
Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome.
Published in:
Cancers, 2021, v. 13, n. 10, p. 2345, doi. 10.3390/cancers13102345
By:
- Abidi, Asima;
- Gorris, Mark A. J.;
- Brennan, Evan;
- Jongmans, Marjolijn C. J.;
- Weijers, Dilys D.;
- Kuiper, Roland P.;
- de Voer, Richarda M.;
- Hoogerbrugge, Nicoline;
- Schreibelt, Gerty;
- de Vries, I. Jolanda M.;
- Salvatore, Lisa
Publication type:
Article
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.
Published in:
Cancers, 2021, v. 13, n. 5, p. 997, doi. 10.3390/cancers13050997
By:
- van Peer, Sophie E.;
- Pleijte, Corine J. H.;
- de Krijger, Ronald R.;
- Jongmans, Marjolijn C. J.;
- Kuiper, Roland P.;
- Lilien, Marc R.;
- van Grotel, Martine;
- Graf, Norbert;
- van den Heuvel-Eibrink, Marry M.;
- Hol, Janna A.;
- Schneider, Dominik
Publication type:
Article
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Published in:
Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114
By:
- Chau, Cindy;
- van Doorn, Remco;
- van Poppelen, Natasha M.;
- van der Stoep, Nienke;
- Mensenkamp, Arjen R.;
- Sijmons, Rolf H.;
- van Paassen, Barbara W.;
- van den Ouweland, Ans M. W.;
- Naus, Nicole C.;
- van der Hout, Annemieke H.;
- Potjer, Thomas P.;
- Bleeker, Fonnet E.;
- Wevers, Marijke R.;
- van Hest, Liselotte P.;
- Jongmans, Marjolijn C. J.;
- Marinkovic, Marina;
- Bleeker, Jaco C.;
- Jager, Martine J.;
- Luyten, Gregorius P. M.;
- Nielsen, Maartje
Publication type:
Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 8, p. 870, doi. 10.1038/ejhg.2011.37
By:
- Jongmans, Marjolijn C. J.;
- van der Burgt, Ineke;
- 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.;
- Kiemeney, Lambertus A. L. M.;
- Hoogerbrugge, Nicoline
Publication type:
Article
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Published in:
JAMA Network Open, 2023, v. 6, n. 1, p. e2254157, doi. 10.1001/jamanetworkopen.2022.54157
By:
- Bakhuizen, Jette J.;
- Hopman, Saskia M. J.;
- Bosscha, Machteld I.;
- Dommering, Charlotte J.;
- van den Heuvel-Eibrink, Marry M.;
- Hol, Janna A.;
- Kester, Lennart A.;
- Koudijs, Marco J.;
- Langenberg, Karin P. S.;
- Loeffen, Jan L. C.;
- van der Lugt, Jasper;
- Moll, Annette C.;
- van Noesel, Max M.;
- Smetsers, Stephanie E.;
- de Vos-Kerkhof, Evelien;
- Merks, Johannes H. M.;
- Kuiper, Roland P.;
- Jongmans, Marjolijn C. J.
Publication type:
Article
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Published in:
International Journal of Cancer, 2024, v. 154, n. 8, p. 1455, doi. 10.1002/ijc.34832
By:
- Weijers, Dilys D.;
- Hirsch, Steffen;
- Bakhuizen, Jette J.;
- van Engelen, Nienke;
- Kester, Lennart A.;
- Kranendonk, Mariëtte E. G.;
- Hiemcke‐Jiwa, Laura S.;
- de Vos‐Kerkhof, Evelien;
- Loeffen, Jan L. C.;
- Autry, Robert J.;
- Pajtler, Kristian W.;
- Jäger, Natalie;
- Jongmans, Marjolijn C. J.;
- Kuiper, Roland P.
Publication type:
Article
The pathophysiology of bilateral and multifocal Wilms tumors: What we can learn from the study of predisposition syndromes.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 2, p. 1, doi. 10.1002/pbc.29984
By:
- Welter, Nils;
- Brzezinski, Jack;
- Treece, Amy;
- Chintagumpala, Murali;
- Young, Matthew D.;
- Perotti, Daniela;
- Kieran, Kathleen;
- Jongmans, Marjolijn C. J.;
- Murphy, Andrew J.
Publication type:
Article
A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.
Published in:
2017
By:
- Bertrums, Eline J. M.;
- Buijs, Arjan;
- Grotel, Martine;
- Dors, Natasja;
- Rooij, Jasmijn D. E.;
- Haas, Valerie;
- Hopman, Sanne;
- Jongmans, Marjolijn C. J.;
- Zwaan, C. M.;
- den Heuvel‐Eibrink, Marry M.;
- van Grotel, Martine;
- de Rooij, Jasmijn D E;
- de Haas, Valerie;
- van den Heuvel-Eibrink, Marry M
Publication type:
journal article
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C<sub>4</sub>CMMRD), Paris, France, November 16th 2022.
Published in:
Familial Cancer, 2024, v. 23, n. 4, p. 447, doi. 10.1007/s10689-024-00403-1
By:
- Guerrini-Rousseau, Léa;
- Gallon, Richard;
- Pineda, Marta;
- Brugières, Laurence;
- Baert-Desurmont, Stéphanie;
- Corsini, Carole;
- Dangouloff-Ros, Volodia;
- Gorris, Mark A. J.;
- Haberler, Christine;
- Hoarau, Pauline;
- Jongmans, Marjolijn C.;
- Kloor, Matthias;
- Loeffen, Jan;
- Rigaud, Charlotte;
- Robbe, Julie;
- Vibert, Roseline;
- Weijers, Dilys;
- Wimmer, Katharina;
- Colas, Chrystelle
Publication type:
Article
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.
Published in:
Familial Cancer, 2021, v. 20, n. 4, p. 337, doi. 10.1007/s10689-021-00264-y
By:
- Bakhuizen, Jette J.;
- Hanson, Helen;
- van der Tuin, Karin;
- Lalloo, Fiona;
- Tischkowitz, Marc;
- Wadt, Karin;
- Jongmans, Marjolijn C. J.;
- SIOPE Host Genome Working Group;
- Dörgeloh, Beate B.;
- Farah, Roula A.;
- Glentis, Stavros;
- Golmard, Lisa;
- Hoyer, Juliane;
- Jahnukainen, Kirsi;
- Jewell, Rosalyn;
- Karow, Axel;
- Katsibardi, Katharina;
- Kuhlen, Michaela;
- Meinhardt, Andrea;
- Nemes, Karolina
Publication type:
Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Published in:
Genes, Chromosomes & Cancer, 2010, v. 49, n. 7, p. 635, doi. 10.1002/gcc.20773
By:
- Jongmans, Marjolijn C. J.;
- Hoogerbrugge, Peter M.;
- Hilkens, Linda;
- Flucke, Uta;
- van der Burgt, Ineke;
- Noordam, Kees;
- Ruiterkamp-Versteeg, Martina;
- Yntema, Helger G.;
- Nillesen, Willy M.;
- Ligtenberg, Marjolijn J. L.;
- van Kessel, Ad Geurts;
- Kuiper, Roland P.;
- Hoogerbrugge, Nicoline
Publication type:
Article
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Published in:
Nucleic Acids Research, 2020, v. 48, n. 2, p. 770, doi. 10.1093/nar/gkz1042
By:
- 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
Publication type:
Article
Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization.
Published in:
PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0261729
By:
- 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.
Publication type:
Article
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.
Published in:
2018
By:
- van der Tuin, Karin;
- de Kock, Leanne;
- Kamping, Eveline J;
- Hannema, Sabine E;
- Pouwels, Marie-Jose M;
- Niedziela, Marek;
- van Wezel, Tom;
- Hes, Frederik J;
- Jongmans, Marjolijn C;
- Foulkes, William D;
- Morreau, Hans
Publication type:
journal article
The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 10, p. 1738, doi. 10.1002/humu.24075
By:
- Chen, Chun‐An;
- Crutcher, Emeline;
- Gill, Harinder;
- Nelson, Tanya N.;
- Robak, Laurie A.;
- Jongmans, Marjolijn C. J.;
- Pfundt, Rolph;
- Prasad, Chitra;
- Berard, Roberta A.;
- Fannemel, Madeleine;
- Frengen, Eirik;
- Misceo, Doriana;
- Ramsey, Keri;
- Yang, Yaping;
- Schaaf, Christian P.;
- Wang, Xia
Publication type:
Article
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Published in:
Haemophilia, 2019, v. 25, n. 1, p. 127, doi. 10.1111/hae.13638
By:
- Blijlevens, Nicole M. A.;
- Smit, Yolba;
- Saes, Joline L.;
- Schols, Saskia E. M.;
- van Heerde, Waander L.;
- Brons, Paul P.;
- Simons, Annet;
- de Munnik, Sonja A.;
- Jongmans, Marjolijn C.;
- Nijziel, Marten R.;
- van der Reijden, Bert A.
Publication type:
Article
Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience.
Published in:
Cancer (0008543X), 2021, v. 127, n. 4, p. 628, doi. 10.1002/cncr.33304
By:
- Hol, Janna A.;
- Jongmans, Marjolijn C. J.;
- Sudour‐Bonnange, Hélène;
- Ramírez‐Villar, Gema L.;
- Chowdhury, Tanzina;
- Rechnitzer, Catherine;
- Pal, Niklas;
- Schleiermacher, Gudrun;
- Karow, Axel;
- Kuiper, Roland P.;
- Camargo, Beatriz;
- Avcin, Simona;
- Redzic, Danka;
- Wachtel, Antonio;
- Segers, Heidi;
- Vujanic, Gordan M.;
- Tinteren, Harm;
- Bergeron, Christophe;
- Pritchard‐Jones, Kathy;
- Graf, Norbert
Publication type:
Article
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.
Published in:
2020
By:
- Vos, Janet R;
- Fakkert, Ingrid E;
- Hullu, Joanne A de;
- Altena, Anne M van;
- Sie, Aisha S;
- Ouchene, Hicham;
- Willems, Riki W;
- Nagtegaal, Iris D;
- Jongmans, Marjolijn C J;
- Mensenkamp, Arjen R;
- Woldringh, Gwendolyn H;
- Bulten, Johan;
- Leter, Edward M;
- Kets, C Marleen;
- Simons, Michiel;
- Ligtenberg, Marjolijn J L;
- Hoogerbrugge, Nicoline;
- Group, OPA Working;
- de Hullu, Joanne A;
- van Altena, Anne M
Publication type:
journal article
Colorectal Adenomas and Cancers After Childhood Cancer Treatment: A DCOG-LATER Record Linkage Study.
Published in:
2018
By:
- 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;
- den Heuvel-Eibrink, Marry M. van;
- van Dulmen-den Broeder, Eline;
- den Berg, Marleen H. van;
- van der Heiden-van der Loo, Margriet;
- Hauptmann, Michael;
- Jongmans, Marjolijn C.;
- Overbeek, Lucy I.;
- de Vijver, Marc J. van;
- Kremer, Leontien C. M.;
- Ronckers, Cécile M.;
- van den Heuvel-Eibrink, Marry M
Publication type:
journal article

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