dr. M.C.J. (Marjolijn) Jongmans Assistant Professor

Section Clinical Genetics

Contact

mjongma3@umcutrecht.nl

Research programs

Cancer (priority program)

Research Output

Research Output

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng Hanyin et al. 3 May 2018 In: American Journal of Human Genetics. 102, p. 985-994 10 p.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Diets Illja J, Waanders Esmé, Ligtenberg Marjolijn J, van Bladel Diede A G, Kamping Eveline J, Hoogerbrugge PM, Hopman SMJ, Olderode-Berends Maran J, Gerkes Erica H, Koolen David A, Marcelis Carlo, Santen Gijs W, van Belzen Martine J, Mordaunt Dylan, McGregor Lesley, Thompson Elizabeth, Kattamis Antonis, Pastorczak Agata, Mlynarski Wojciech, Ilencikova Denisa, van Silfhout Anneke Vulto-, Gardeitchik Thatjana, de Bont Eveline S, Loeffen JLCM, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans MCJ 1 Apr 2018 In: Clinical Cancer Research. 24, p. 1594-1603 10 p.

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 MCJ, Schreibelt Gerty 10 Sep 2017 In: Cancer Letters. 403, p. 159-164 6 p.

Platelet CD34 expression and alpha/delta-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders

Marneth Anna E., Van Heerde Waander L., Hebeda Konnie M., Laros-Van Gorkom Britta A P, Barteling Wideke, Willemsen Brigith, De Graaf Aniek O., Simons Annet, Jansen J.H.M., Preijers Frank, Jongmans MCJ, Van Der Reijden Bert A. 23 Mar 2017 In: Blood. 129, p. 1733-1736 4 p.

Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

Diets I J, Nagtegaal I D, Loeffen JLCM, de Blaauw I, Waanders E, Hoogerbrugge N, Jongmans MCJ 17 Jan 2017 In: British Journal of Cancer. 116, p. 163-168 6 p.

Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): Protocol for a prospective, observational, multicentre study

Postema Floor A M, Hopman SMJ, De Borgie Corianne A J M, Hammond Peter, Hennekam Raoul C., Merks Johannes H M, Aalfs Cora M., Anninga JK, Berger Lieke P V, Bleeker Fonnet E., De Bont Eveline S J M, Dommering Charlotte J., van Eijkelenburg NKA, Eibrink MM, Jongmans MCJ, Kors Wijnanda A., Letteboer TGW, Loeffen JLCM, Olderode-Berends Maran J W, Wagner Anja 1 Jan 2017 In: BMJ open [E]. 7

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin Claire et al. Jan 2017 In: Nature Genetics. 49, p. 36–45

Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation

Postema Floor A M, Hopman SMJ, Aalfs Cora M, Berger Lieke P V, Bleeker Fonnet E, Dommering Charlotte J, Jongmans MCJ, Letteboer TGW, Olderode-Berends Maran J W, Wagner Anja, Hennekam Raoul C, Merks Johannes H M 2017 In: European Journal of Cancer. 80, p. 48-54 7 p.

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease

Bertrums Eline J M, Buijs A, van Grotel M, Dors N, de Rooij Jasmijn D E, de Haas V, Hopman Sanne, Jongmans MCJ, Zwaan C M, Eibrink MM 2017 In: Pediatric Blood & Cancer. 64

Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells

Rank Lisa, Veith Sebastian, Gwosch Eva C, Demgenski Janine, Ganz Magdalena, Jongmans MCJ, 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 29 Sep 2016 In: Nucleic Acids Research. 44, p. 10386–10405

All Research Output (22)

Contact

Research programs

Research Output

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