Publications by authors named "Marjolijn C Jongmans"

42Publications

Natural gene therapy in hematopoietic disorders: GATA too.

Blood 2020 Aug;136(8):923-924

Princess Máxima Center for Pediatric Oncology.

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http://dx.doi.org/10.1182/blood.2020007001DOI Listing
August 2020

Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.

Clin Gastroenterol Hepatol 2020 Jun 22. Epub 2020 Jun 22.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.cgh.2020.06.034DOI Listing
June 2020

Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.

Am J Hematol 2020 06 8;95(6):E136-E139. Epub 2020 Apr 8.

Department of Laboratory Medicine, Laboratory of Hematology, Radboudumc and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajh.25770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317484PMC
June 2020

Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Haemophilia 2019 Jan 15;25(1):127-135. Epub 2018 Nov 15.

Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1111/hae.13638
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http://dx.doi.org/10.1111/hae.13638DOI Listing
January 2019

Somatic reversion events point towards as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Haematologica 2018 12 13;103(12):e607-e609. Epub 2018 Sep 13.

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

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http://dx.doi.org/10.3324/haematol.2018.200683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269308PMC
December 2018

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

Genet Med 2019 03 15;21(3):572-579. Epub 2018 Jun 15.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0079-4DOI Listing
March 2019

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).

Eur J Hum Genet 2018 10 14;26(10):1417-1423. Epub 2018 Jun 14.

Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-018-0197-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138701PMC
October 2018

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Cancer Lett 2017 09 20;403:159-164. Epub 2017 Jun 20.

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03043835173040
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http://dx.doi.org/10.1016/j.canlet.2017.06.018DOI Listing
September 2017

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

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

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

Pediatr Blood Cancer 2017 03 26;64(3). Epub 2016 Sep 26.

Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/pbc.26230DOI Listing
March 2017

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.

Eur J Med Genet 2016 Mar 26;59(3):116-25. Epub 2016 Jan 26.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2016.01.008DOI Listing
March 2016

[Constitutional mismatch repair deficiency syndrome].

Ned Tijdschr Geneeskd 2015 ;159:A8602

Radboudumc, Nijmegen.

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December 2015

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

J Clin Endocrinol Metab 2012 May 7;97(5):E858-62. Epub 2012 Mar 7.

Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1210/jc.2011-2652DOI Listing
May 2012

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):417-25. Epub 2008 Apr 4.

Department of Genetics, University Medical Center Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.03.003DOI Listing
November 2008