Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes

Authors: van Peer, Sophie E., Kuiper, Roland P., Hol, Janna A., Egging, Sanne, van der Zwaag, Bert, Lilien, Marc R., Lombardi, M. Paola, van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J.

Source: In Kidney International Reports December 2024 9(12):3570-3579

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Authors: Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske

Source: In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins

Authors: Edel, Gabriëla G., Hol, Janna A., Slot, Evelien, von der Thüsen, Jan H., van Bever, Yolande, de Jonge, Rogier C.J., van Tienhoven, Marianne, Brüggenwirth, Hennie T., de Klein, Annelies, Rottier, Robbert J.

Source: In Laboratory Investigation November 2023 103(11)

Parents' experiences with large‐scale sequencing for genetic predisposition in pediatric renal cancer: A qualitative study

Authors: Bon, Sebastian B. B., Wouters, Roel H. P., Hol, Janna A., Jongmans, Marjolijn C. J., Heuvel‐Eibrink, Marry M., Grootenhuis, Martha A.

Source: Psycho-oncology. 31(10):1692-1699

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165990136.0x000001&indx=1&recIds=ETOCvdc_100165990136.0x000001

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Authors: Hol, Janna A., Kuiper, Roland P., van Dijk, Freerk, Waanders, Esmé, van Peer, Sophie E., Koudijs, Marco J., Bladergroen, Reno, van Reijmersdal, Simon V., Morgado, Lionel M., Bliek, Jet, Lombardi, Maria Paola, Hopman, Saskia, Drost, Jarno, de Krijger, Ronald R., van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J.

Source: Journal of clinical oncology. 40(17):1892-1902

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152858332.0x000001&indx=1&recIds=ETOCvdc_100152858332.0x000001

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

Authors: 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.

Source: In European Journal of Cancer August 2021 153:51-63

Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93‐01, 2001 and UK‐IMPORT database: A report of the SIOP‐Renal Tumor Study Group

Authors: Beek, Justine N., Hol, Janna A., Coulomb‐l'Hermine, Aurore, Graf, Norbert, Tinteren, Harm, Pritchard‐Jones, Kathy, Houwing, Maite E., Krijger, Ronald R., Vujanic, Gordan M., Dzhuma, Kristina, Schenk, Jens‐Peter, Littooij, Annemieke S., Ramírez‐Villar, Gema L., Murphy, Dermot, Ray, Satyajit, Al‐Saadi, Reem, Gessler, Manfred, Godzinski, Jan, Ruebe, Christian, Collini, Paola, Verschuur, Arnaud C., Frisk, Tony, Vokuhl, Christian, Hulsbergen‐van de Kaa, Christina A., Camargo, Beatriz, Sandstedt, Bengt, Selle, Barbara, Tytgat, Godelieve A. M., Heuvel‐Eibrink, Marry M.

Source: International journal of cancer. 148(11):2724-2735

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131465745.0x000001&indx=1&recIds=ETOCvdc_100131465745.0x000001

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience

Authors: 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, Heuvel‐Eibrink, Marry M., Weid, Nicolas, Maricourt, Cécile Dumesnil, Proust, Stéphanie, Plantaz, Dominique, Perret, Cécile, Thomas, Caroline, Thebaud, Estelle, Boulanger, Cécile, Couteau, Nathalie, Verschuur, Arnauld C., Vaidya, Sucheta J., Oostveen, Radna Minou, Al‐Saadi, Reem, Maes, Philip, Werff‐ten Bosch, Jutte, Behrentz, Michael, Vujić, Dragana, Hasle, Henrik

Source: Cancer. 127(4):628-638

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131420476.0x000001&indx=1&recIds=ETOCvdc_100131420476.0x000001

Paediatric metanephric tumours: a clinicopathological and molecular characterisation

Authors: de Jel, Dominique V.C., Hol, Janna A. ^*, Ooms, Ariadne H.A.G., de Krijger, Ronald R., Jongmans, Marjolijn C.J., Littooij, Annemieke S., Drost, Jarno, van Grotel, Martine, van den Heuvel-Eibrink, Marry M.

Source: In Critical Reviews in Oncology / Hematology June 2020 150

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges

Authors: Libes, Jaime, Hol, Janna, Neto, Joaquim Caetano de Aguirre, Vallance, Kelly L., Tinteren, Harm van, Benedetti, Daniel J., Villar, Gema Lucia Ramirez, Duncan, Catriona, Ehrlich, Peter F.

Source: Pediatric blood & cancer. 70

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182167203.0x000001&indx=1&recIds=ETOCvdc_100182167203.0x000001

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

Authors: van den Broek, Brigitte T.A. ^*, Page, Kristin ^*, Paviglianiti, Annalisa ^*, Hol, Janna, Allewelt, Heather, Volt, Fernanda, Michel, Gerard, Diaz, Miguel Angel, Bordon, Victoria, O'Brien, Tracey, Shaw, Peter J., Kenzey, Chantal, Al-Seraihy, Amal, van Hasselt, Peter M., Gennery, Andrew R., Gluckman, Eliane, Rocha, Vanderson, Ruggeri, Annalisa, Kurtzberg, Joanne, Boelens, Jaap Jan

Source: In Blood Advances 9 January 2018 2(1):49-60

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Authors: Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Geneviève, Wolf, Nicole

Source: Neuropediatrics. 48(3):152-160

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179835459.0x000001&indx=1&recIds=ETOCvdc_100179835459.0x000001

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Authors: Copier, Jaël S, Bootsma, Marianne, Ng, Chai A, Wilde, Arthur A M, Bertels, Robin A, Bikker, Hennie, Christiaans, Imke, Crabben, Saskia N van der, Hol, Janna A, Koopmann, Tamara T, Knijnenburg, Jeroen, Lommerse, Aafke A J, Smagt, Jasper J van der, Bezzina, Connie R, Vandenberg, Jamie I, Verkerk, Arie O, Barge-Schaapveld, Daniela Q C M, Lodder, Elisabeth M

Source: Human Molecular Genetics; Apr2023, Vol. 32 Issue 7, p1072-1082, 11p

Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization.

Authors: 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.

Source: PLoS ONE; 1/13/2022, Vol. 17 Issue 1, p1-15, 15p

Subject Terms: KIDNEY tumors, TUMORS in children, CHILD patients, NEOADJUVANT chemotherapy, PEDIATRIC oncology, NEPHROBLASTOMA

Geographic Terms: NETHERLANDS

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Authors: Postema, Floor A. M., Hopman, Saskia M. J., de Borgie, Corianne A. J. M., Aalfs, Cora M., Anninga, Jakob K., Berger, Lieke P. V., Bleeker, Fonnet E., Dommering, Charlotte J., van Eijkelenburg, Natasha K. A., Hammond, Peter, van den Heuvel-Eibrink, Marry M., Hol, Janna A., Kors, Wijnanda A., Letteboer, Tom G. W., Loeffen, Jan L. C. M., Meijer, Lisethe, Olderode-Berends, Maran J. W., Wagner, Anja, Hennekam, Raoul C., Merks, Johannes H. M.

Source: Familial Cancer; Oct2021, Vol. 20 Issue 4, p263-271, 9p

Subject Terms: CHILDHOOD cancer, CANCER patients, CANCER diagnosis, SYNDROMES, DIAGNOSIS

Geographic Terms: NETHERLANDS

TRIM28 variants and Wilms' tumour predisposition.

Authors: Hol, Janna A., Diets, Illja J., de Krijger, Ronald R., van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C. J., Kuiper, Roland P.

Source: Journal of Pathology; Jul2021, Vol. 254 Issue 4, p494-504, 11p

Subject Terms: TUMOR suppressor genes, SOMATIC mutation, KIDNEY development, EMBRYOLOGY, GENETIC testing, TUMORS

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Irinotecan for relapsed Wilms tumor in pediatric patients: SIOP experience and review of the literature-A report from the SIOP Renal Tumor Study Group.

Authors: Hol, Janna A., van den Heuvel‐Eibrink, Marry M., Graf, Norbert, Pritchard‐Jones, Kathy, Brok, Jesper, van Tinteren, Harm, Howell, Lisa, Verschuur, Arnauld, Bergeron, Christophe, Kager, Leo, Catania, Serena, Spreafico, Filippo, Mavinkurve‐Groothuis, Annelies M. C.

Source: Pediatric Blood & Cancer; Feb2018, Vol. 65 Issue 2, pn/a-1, 6p

Position paper: Rationale for the treatment of Wilms tumour in the UMBRELLA SIOP–RTSG 2016 protocol

Authors: van den Heuvel-Eibrink, Marry M., Hol, Janna A., Pritchard-Jones, Kathy, van Tinteren, Harm, Furtwängler, Rhoikos, Verschuur, Arnauld C., Vujanic, Gordan M., Leuschner, Ivo, Brok, Jesper, Rübe, Christian, Smets, Anne M., Janssens, Geert O., Godzinski, Jan, Ramírez-Villar, Gema L., de Camargo, Beatriz, Segers, Heidi, Collini, Paola, Gessler, Manfred, Bergeron, Christophe, Spreafico, Filippo, Graf, Norbert

Source: Nature Reviews Urology; December 2017, Vol. 14 Issue: 12 p743-752, 10p