dr. M.C.J. (Marjolijn) Jongmans
Assistant Professor
- Section Clinical Genetics
Contact
Research Output (53)
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 4 dec 2019, In: Nucleic Acids Research. 48 , p. 770-787 18 p.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Konrad Enrico D.H., Nardini Niels, Caliebe Almuth, Nagel Inga, Young Dana, Horvath Gabriella, Santoro Stephanie L., Shuss Christine, Ziegler Alban, Bonneau Dominique, Kempers Marlies, Pfundt Rolph, Legius Eric, Bouman Arjan, Stuurman Kyra E., Õunap Katrin, Pajusalu Sander, Wojcik Monica H., Vasileiou Georgia, Le Guyader Gwenaël, Schnelle Hege M., Berland Siren, Zonneveld-Huijssoon Evelien, Kersten Simone, Gupta Aditi, Blackburn Patrick R., Ellingson Marissa S., Ferber Matthew J., Dhamija Radhika, Klee Eric W., McEntagart Meriel, Lichtenbelt Klaske D., Kenney Amy, Vergano Samantha A., Abou Jamra Rami, Platzer Konrad, Ella Pierpont Mary, Khattar Divya, Hopkin Robert J., Martin Richard J., Jongmans Marjolijn C.J., Chang Vivian Y., Martinez-Agosto Julian A., Kuismin Outi, Kurki Mitja I., Pietiläinen Olli, Palotie Aarno, Maarup Timothy J., Johnson Diana S., Brilstra Eva H., dec 2019, In: Genetics in Medicine. 21 , p. 2723-2733 11 p.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Suerink Manon, Rodríguez-Girondo Mar, van der Klift Heleen M., Colas Chrystelle, Brugieres Laurence, Lavoine Noémie, Jongmans Marjolijn, Munar Gabriel Capellá, Evans D. Gareth, Farrell Michael P., Genuardi Maurizio, Goldberg Yael, Gomez-Garcia Encarna, Heinimann Karl, Hoell Jessica I., Aretz Stefan, Jasperson Kory W., Kedar Inbal, Modi Mitul B., Nikolaev Sergey, van Os Theo A.M., Ripperger Tim, Rueda Daniel, Senter Leigha, Sjursen Wenche, Sunde Lone, Therkildsen Christina, Tibiletti Maria G., Trainer Alison H., Vos Yvonne J., Wagner Anja, Winship Ingrid, Wimmer Katharina, Zimmermann Stefanie Y., Vasen Hans F., van Asperen Christi J., Houwing-Duistermaat Jeanine J., ten Broeke Sanne W., Nielsen Maartje dec 2019, In: Genetics in Medicine. 21 , p. 2706-2712 7 p.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands:Path to Identification and a Proposal for Genetic Screening Guidelines
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 1 aug 2019, In: Cancers. 11
Incidence of and Risk Factors for Histologically Confirmed Solid Benign Tumors among Long-term Survivors of Childhood Cancer
Kok Judith L., Teepen Jop C., Van Der Pal Helena J., Van Leeuwen Flora E., Tissing Wim J.E., Neggers Sebastian J.C.M.M., Loonen Jacqueline J., Louwerens Marloes, Versluys Birgitta, Van Den Heuvel-Eibrink Marry M., Van Dulmen-Den Broeder Eline, Jaspers Monique M.W., Van Santen Hanneke M., Van Der Heiden-Van Der Loo Margriet, Janssens Geert O., Maduro John H., Bruggink Annette H., Jongmans Marjolijn C., Kremer Leontien C.M., Ronckers Cécile M. 1 mei 2019, In: JAMA Oncology. 5 , p. 671-680 10 p.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Diets Illja J., van der Donk Roos, Baltrunaite Kristina, Waanders Esmé, Reijnders Margot R.F., Dingemans Alexander J.M., Pfundt Rolph, Vulto-van Silfhout Anneke T., Wiel Laurens, Gilissen Christian, Thevenon Julien, Perrin Laurence, Afenjar Alexandra, Nava Caroline, Keren Boris, Bartz Sarah, Peri Bethany, Beunders Gea, Verbeek Nienke, van Gassen Koen, Thiffault Isabelle, Cadieux-Dion Maxime, Huerta-Saenz Lina, Wagner Matias, Konstantopoulou Vassiliki, Vodopiutz Julia, Griese Matthias, Boel Annekatrien, Callewaert Bert, Brunner Han G., Kleefstra Tjitske, Hoogerbrugge Nicoline, de Vries Bert B.A., Hwa Vivian, Dauber Andrew, Hehir-Kwa Jayne Y., Kuiper Roland P., Jongmans Marjolijn C.J. 4 apr 2019, In: American Journal of Human Genetics. 104 , p. 758-766 9 p.
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype
Grolleman Judith E., de Voer Richarda M., Elsayed Fadwa A., Nielsen Maartje, Weren Robbert D.A., Palles Claire, Ligtenberg Marjolijn J.L., Vos Janet R., ten Broeke Sanne W., de Miranda Noel F.C.C., Kuiper Renske A., Kamping Eveline J., Jansen Erik A.M., Vink-Börger M. Elisa, Popp Isabell, Lang Alois, Spier Isabel, Hüneburg Robert, James Paul A., Li Na, Staninova Marija, Lindsay Helen, Cockburn David, Spasic-Boskovic Olivera, Clendenning Mark, Sweet Kevin, Capellá Gabriel, Sjursen Wenche, Høberg-Vetti Hildegunn, Jongmans Marjolijn C., Neveling Kornelia, Geurts van Kessel Ad, Morreau Hans, Hes Frederik J., Sijmons Rolf H., Schackert Hans K., Ruiz-Ponte Clara, Dymerska Dagmara, Lubinski Jan, Rivera Barbara, Foulkes William D., Tomlinson Ian P., Valle Laura, Buchanan Daniel D., Kenwrick Sue, Adlard Julian, Dimovski Aleksandar J., Campbell Ian G., Aretz Stefan, Schindler Detlev, 11 feb 2019, In: Cancer Cell. 35 , p. 256-266.e5
TRIM28 haploinsufficiency predisposes to Wilms tumor
Diets Illja J., Hoyer Juliane, Ekici Arif B., Popp Bernt, Hoogerbrugge Nicoline, van 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, de Krijger Ronald R., Wegert Jenny, Graf Norbert, Vokuhl Christian, Agaimy Abbas, Gessler Manfred, Reis André, Kuiper Roland P., Jongmans Marjolijn C.J., Metzler Markus 29 jan 2019, In: International Journal of Cancer. 145 , p. 941-951 11 p.
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis
Saes Joline L, Simons Annet, de Munnik Sonja A, Nijziel Marten R, Blijlevens Nicole M A, Jongmans Marjolijn C, van der Reijden Bert A, Smit Yolba, Brons Paul P, van Heerde Waander L, Schols Saskia E M 15 nov 2018, In: Haemophilia. 25 , p. 127-135 9 p.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1:consensus guidelines for testing a child without malignancy
Suerink Manon, Ripperger Tim, Messiaen Ludwine, Menko Fred H, Bourdeaut Franck, Colas Chrystelle, Jongmans Marjolijn, Goldberg Yael, Nielsen Maartje, Muleris Martine, van Kouwen Mariëtte, Slavc Irene, Kratz Christian, Vasen Hans F, Brugiѐres Laurence, Legius Eric, Wimmer Katharina 10 nov 2018, In: Journal of Medical Genetics. 56 , p. 53-62 10 p.