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ing. M.N.N. (Marjolijn) Roukema

ing. M.N.N. (Marjolijn) Roukema

Associate Professor - medical
ing. M.N.N. (Marjolijn) Roukema
  • Section Clinical Genetics

Research Output (78)

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

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 13 Jan 2022, In: PLoS ONE. 17

Bilateral Renal Tumors in Children:The First 5 Years' Experience of National Centralization in The Netherlands and a Narrative Review of the Literature

van Peer Sophie E., Hol Janna A., van der Steeg Alida F.W., van Grotel Martine, 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. 1 Dec 2021, In: Journal of Clinical medicine. 10 , p. 1-20

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Koster R., Brandão R. D., Tserpelis D., van Roozendaal C. E.P., van Oosterhoud C. N., Claes K. B.M., Paulussen A. D.C., Sinnema M., Vreeburg M., van der Schoot V., Stumpel C. T.R.M., Broen M. P.G., Spruijt L., Jongmans M. C.J., Lesnik Oberstein S. A.J., Plomp A. S., Misra-Isrie M., Duijkers F. A., Louwers M. J., Szklarczyk R., Derks K. W.J., Brunner H. G., van den Wijngaard A., van Geel M., Blok M. J. 15 Nov 2021, In: npj Genomic Medicine. 6 , p. 1-10

Characteristics and Outcome of Children with Renal Tumors in the Netherlands: First Five Year Single National Center Experience

Roy P., Witte M., Van Peer S., Karim-Kos H., Van Grotel M., Van De Ven C., Mavinkurve-Groothuis A., Merks J., Janssens G., De Krijger R., Jongmans M., Drost J., Littooij A., Wijnen M., Van der Steeg A., Tytgat L., Van Tinteren H., Van den Heuvel-Eibrink M. Nov 2021, In: Pediatric Blood & Cancer. 68 , p. S233-S233

Bilateral Renal Tumors in Children: The First 5 Years' Experience of National Centralization in the Netherlands

Van Peer S., Van Der Steeg A., Hol J., VanGrotel M., Tytgat L., Mavinkurve-Groothuis A., Janssens G., Littooij A., De Krijger R., Drost J., Jongmans M., Lilien M., Kuiper R., Van Tinteren H., Wijnen M., Van Den Heuvel-Eibrink M. Nov 2021, In: Pediatric Blood & Cancer. 68 , p. S21-S21

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Bakhuizen Jette J., Hanson Helen, van der Tuin Karin, Lalloo Fiona, Tischkowitz Marc, Wadt Karin, Jongmans Marjolijn C.J., , , , van Santen HM 1 Oct 2021, In: Familial cancer. 20 , p. 337-348 12 p.

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

Byrjalsen Anna, Diets Illja J., Bakhuizen Jette, Hansen Thomas van Overeem, Schmiegelow Kjeld, Gerdes Anne Marie, Stoltze Ulrik, Kuiper Roland P., Merks Johannes H.M., Wadt Karin, Jongmans Marjolijn Oct 2021, In: Familial cancer. 20 , p. 279-287 9 p.

Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

van Engelen N., van Dijk F., Waanders E., Buijs A., Vermeulen M. A., Loeffen J. L.C., Kuiper R. P., Jongmans M. C.J. Oct 2021, In: Familial cancer. 20 , p. 349-354 6 p.

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

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 E.M., Lequin Maarten H., Küsters Benno, Wesseling Pieter, Nelen Marcel, Biegel Jacklyn A., Hoischen Alexander, Jongmans Marjolijn C., Kuiper Roland P. Oct 2021, In: Journal of Pathology. 255 , p. 202-211 10 p.

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

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. Aug 2021, In: European Journal of Cancer. 153 , p. 51-63 13 p.

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