Stef van Lieshout

GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genes.

Authors:

Evert van den Broek Stef van Lieshout Christian Rausch Bauke Ylstra Mark A van de Wiel Gerrit A Meijer Remond J A Fijneman Sanne Abeln

F1000Res 2016 19;5:2340. Epub 2016 Sep 19.

Department of Computer Science, VU University Medical Center, Amsterdam, 1081 HV, Netherlands.

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September 2016

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

J Clin Invest 2016 08 18;126(8):2881-92. Epub 2016 Jul 18.

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August 2016

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Authors:

Wendy W J de Leng Christa G Gadellaa-van Hooijdonk Françoise A S Barendregt-Smouter Marco J Koudijs Ies Nijman John W J Hinrichs Edwin Cuppen Stef van Lieshout Robert D Loberg Maja de Jonge Emile E Voest Roel A de Weger Neeltje Steeghs Marlies H G Langenberg Stefan Sleijfer Stefan M Willems Martijn P Lolkema

PLoS One 2016 26;11(2):e0149405. Epub 2016 Feb 26.

Netherlands Center for Personalized Cancer Treatment, Utrecht, The Netherlands.

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July 2016

Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa: A Case Report.

Authors:

Fleur Weeber Marco J Koudijs Marlous Hoogstraat Nicolle J M Besselink Stef VAN Lieshout Isaac J Nijman Edwin Cuppen G Johan Offerhaus Emile E Voest

Anticancer Res 2015 Jun;35(6):3399-403

Department of Molecular Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

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June 2015

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.

Authors:

Carolien G F de Kovel Miriam H Meisler Eva H Brilstra Frederique M C van Berkestijn Ruben van 't Slot Stef van Lieshout Isaac J Nijman Janelle E O'Brien Michael F Hammer Mark Estacion Stephen G Waxman Sulayman D Dib-Hajj Bobby P C Koeleman

Epilepsy Res 2014 Nov 4;108(9):1511-8. Epub 2014 Sep 4.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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November 2014

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Authors:

Isaac J Nijman Joris M van Montfrans Marlous Hoogstraat Marianne L Boes Lisette van de Corput Ellen D Renner Patrick van Zon Stef van Lieshout Martin G Elferink Mirjam van der Burg Clementien L Vermont Bert van der Zwaag Esther Janson Edwin Cuppen Johannes K Ploos van Amstel Marielle E van Gijn

J Allergy Clin Immunol 2014 Feb 15;133(2):529-34. Epub 2013 Oct 15.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:

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February 2014

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Authors:

Denny Schanze Magdalena Harakalova Cathy A Stevens Francesco Brancati Bruno Dallapiccola Peter Farndon Victor E F Ferraz Donna M McDonald-McGinn Elaine H Zackai Michael Wright Stef van Lieshout Maartje J Vogel Mieke M van Haelst Martin Zenker

Am J Med Genet A 2013 Dec 24;161A(12):3012-7. Epub 2013 Sep 24.

Institute of Human Genetics, University Hospital Magdeburg, Germany.

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December 2013

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Authors:

Magdalena Harakalova Marie-Jose van den Boogaard Richard Sinke Stef van Lieshout Marc C van Tuil Karen Duran Ivo Renkens Paulien A Terhal Carolien de Kovel Ies J Nijman Mieke van Haelst Nine V A M Knoers Gijs van Haaften Wigard Kloosterman Raoul C M Hennekam Edwin Cuppen Hans Kristian Ploos van Amstel

J Med Genet 2012 Aug;49(8):539-43

Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht 3584 EA, The Netherlands.

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August 2012

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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May 2012

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

Authors:

Wigard P Kloosterman Marlous Hoogstraat Oscar Paling Masoumeh Tavakoli-Yaraki Ivo Renkens Joost S Vermaat Markus J van Roosmalen Stef van Lieshout Isaac J Nijman Wijnand Roessingh Ruben van 't Slot José van de Belt Victor Guryev Marco Koudijs Emile Voest Edwin Cuppen

Genome Biol 2011 Oct 19;12(10):R103. Epub 2011 Oct 19.

Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, 3584 CG, The Netherlands.

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October 2011

Publications by authors named "Stef van Lieshout"

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