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

Section Clinical Genetics

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Research Output

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

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.

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1-syndrome

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 26 Sep 2018 In: Journal of Clinical Endocrinology and Metabolism. 104, p. 277-284

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 13 Sep 2018 In: Haematologica. 103, p. e607-e609

Severe positional central sleep apnea in an asymptomatic adult with a PHOX2B frameshift mutation

Janssen Hennie C J P, Vulto-van Silfhout Anneke T, Jongmans Marjolijn C J, van der Hout Annemieke H, Overeem Sebastiaan 15 Aug 2018 In: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 14, p. 1427-1430 4 p.

Colorectal Adenomas and Cancers After Childhood Cancer Treatment: A DCOG-LATER Record Linkage Study

Teepen J 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 A B, 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 M C, Overbeek L I, van de Vijver M J, Kremer L C M, Ronckers C M, Aleman B M P, van den Berg M H, Caron H N, Daniels L A, Dolsma W, van Dulmen-den Broeder E, Grootenhuis M A, Haasbeek C J, den Hartogh J G, Hauptmann M, van der Heiden-van der Loo M, van den Heuvel-Eibrink Marry M, Hollema N, Janssens G O, Jongmans M C, Jaspers M W M, Kok J L, Kremer L C M, van Leeuwen F E, Loonen J, Maduro J H, Neggers S J C M M, Oldenburger F, van der Pal H J, Postma A, Ronckers C M, Tersteeg R J, Tissing Wim J E, Versluys A B, Zsíros J, 1 Jul 2018 In: Journal of the National Cancer Institute. 110, p. 758-767 10 p.

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

Diets Illja J, Prescott Trine, Champaigne Neena L, Mancini Grazia M S, Krossnes Bård, Frič Radek, Kocsis Kristina, Jongmans Marjolijn C J, Kleefstra Tjitske 15 Jun 2018 In: Genetics in Medicine. 21, p. 572-579 8 p.

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 Peter M, Hopman Saskia, 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 Jan, Wagner Anja, Mensenkamp Arjen R, Kuiper Roland P, Hoogerbrugge Nicoline, Jongmans Marjolijn C 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 Marjolijn C.J., Schreibelt Gerty 10 Sep 2017 In: Cancer Letters. 403, p. 159-164 6 p.

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