Publications by authors named "Irene Janssen"

26Publications

Effects of developmental plasticity on heat tolerance may be mediated by changes in cell size in Drosophila melanogaster.

Authors:
Nadja Verspagen Félix P Leiva Irene M Janssen Wilco C E P Verberk

Insect Sci 2020 Dec 17;27(6):1244-1256. Epub 2020 Jan 17.

Department of Animal Ecology and Physiology, Institute for Water and Wetland Research, Radboud University, Nijmegen, The Netherlands.

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December 2020

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Authors:
Rolph Pfundt Marisol Del Rosario Lisenka E L M Vissers Michael P Kwint Irene M Janssen Nicole de Leeuw Helger G Yntema Marcel R Nelen Dorien Lugtenberg Erik-Jan Kamsteeg Nienke Wieskamp Alexander P A Stegmann Servi J C Stevens Richard J T Rodenburg Annet Simons Arjen R Mensenkamp Tuula Rinne Christian Gilissen Hans Scheffer Joris A Veltman Jayne Y Hehir-Kwa

Genet Med 2017 06 27;19(6):667-675. Epub 2016 Oct 27.

Department of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, The Netherlands.

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June 2017

Genome sequencing identifies major causes of severe intellectual disability.

Authors:
Christian Gilissen Jayne Y Hehir-Kwa Djie Tjwan Thung Maartje van de Vorst Bregje W M van Bon Marjolein H Willemsen Michael Kwint Irene M Janssen Alexander Hoischen Annette Schenck Richard Leach Robert Klein Rick Tearle Tan Bo Rolph Pfundt Helger G Yntema Bert B A de Vries Tjitske Kleefstra Han G Brunner Lisenka E L M Vissers Joris A Veltman

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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July 2014

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.

Authors:
Karen Buysse Joep de Ligt Irene M Janssen Bregje W M van Bon Ingrid Gomes Jayne Hehir-Kwa Alex J Eggink John M G van Vugt Lisenka E L M Vissers Ad Geurts van Kessel Brigitte H W Faas

Prenat Diagn 2014 Apr 6;34(4):402-5. Epub 2014 Feb 6.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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April 2014

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Authors:
Janneke H M Schuurs-Hoeijmakers Anneke T Vulto-van Silfhout Lisenka E L M Vissers Ilse I G M van de Vondervoort Bregje W M van Bon Joep de Ligt Christian Gilissen Jayne Y Hehir-Kwa Kornelia Neveling Marisol del Rosario Gausiya Hira Santina Reitano Aurelio Vitello Pinella Failla Donatella Greco Marco Fichera Ornella Galesi Tjitske Kleefstra Marie T Greally Charlotte W Ockeloen Marjolein H Willemsen Ernie M H F Bongers Irene M Janssen Rolph Pfundt Joris A Veltman Corrado Romano Michèl A Willemsen Hans van Bokhoven Han G Brunner Bert B A de Vries Arjan P M de Brouwer

J Med Genet 2013 Dec 11;50(12):802-11. Epub 2013 Oct 11.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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December 2013

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

Authors:
Karen Buysse Lean Beulen Ingrid Gomes Christian Gilissen Chantal Keesmaat Irene M Janssen Judith J H T Derks-Willemen Joep de Ligt Ilse Feenstra Mireille N Bekker John M G van Vugt Ad Geurts van Kessel Lisenka E L M Vissers Brigitte H W Faas

Clin Biochem 2013 Dec 8;46(18):1783-6. Epub 2013 Aug 8.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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December 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Authors:
Janneke H M Schuurs-Hoeijmakers Michael T Geraghty Erik-Jan Kamsteeg Salma Ben-Salem Susanne T de Bot Bonnie Nijhof Ilse I G M van de Vondervoort Marinette van der Graaf Anna Castells Nobau Irene Otte-Höller Sascha Vermeer Amanda C Smith Peter Humphreys Jeremy Schwartzentruber Bassam R Ali Saeed A Al-Yahyaee Said Tariq Thachillath Pramathan Riad Bayoumi Hubertus P H Kremer Bart P van de Warrenburg Willem M R van den Akker Christian Gilissen Joris A Veltman Irene M Janssen Anneke T Vulto-van Silfhout Saskia van der Velde-Visser Dirk J Lefeber Adinda Diekstra Corrie E Erasmus Michèl A Willemsen Lisenka E L M Vissers Martin Lammens Hans van Bokhoven Han G Brunner Ron A Wevers Annette Schenck Lihadh Al-Gazali Bert B A de Vries Arjan P M de Brouwer

Am J Hum Genet 2012 Dec 21;91(6):1073-81. Epub 2012 Nov 21.

Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO box 9101, 6500 HB Nijmegen, The Netherlands.

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December 2012

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells.

Authors:
Brigitte H W Faas Joep de Ligt Irene Janssen Alex J Eggink Lia D E Wijnberger John M G van Vugt Lisenka Vissers Ad Geurts van Kessel

Expert Opin Biol Ther 2012 Jun 16;12 Suppl 1:S19-26. Epub 2012 Apr 16.

Radboud University Nijmegen Medical Centre, Department of Human Genetics, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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June 2012

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Authors:
Lisenka E L M Vissers Timothy C Cox A Murat Maga Kieran M Short Fenny Wiradjaja Irene M Janssen Fernanda Jehee Debora Bertola Jia Liu Garima Yagnik Kiyotoshi Sekiguchi Daiji Kiyozumi Hans van Bokhoven Carlo Marcelis Michael L Cunningham Peter J Anderson Simeon A Boyadjiev Maria Rita Passos-Bueno Joris A Veltman Ian Smyth Michael F Buckley Tony Roscioli

PLoS Genet 2011 Sep 8;7(9):e1002278. Epub 2011 Sep 8.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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September 2011

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Authors:
Alexander Hoischen Bregje W M van Bon Benjamín Rodríguez-Santiago Christian Gilissen Lisenka E L M Vissers Petra de Vries Irene Janssen Bart van Lier Rob Hastings Sarah F Smithson Ruth Newbury-Ecob Susanne Kjaergaard Judith Goodship Ruth McGowan Deborah Bartholdi Anita Rauch Maarit Peippo Jan M Cobben Dagmar Wieczorek Gabriele Gillessen-Kaesbach Joris A Veltman Han G Brunner Bert B B A de Vries

Nat Genet 2011 Jun 26;43(8):729-31. Epub 2011 Jun 26.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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June 2011

A de novo paradigm for mental retardation.

Authors:
Lisenka E L M Vissers Joep de Ligt Christian Gilissen Irene Janssen Marloes Steehouwer Petra de Vries Bart van Lier Peer Arts Nienke Wieskamp Marisol del Rosario Bregje W M van Bon Alexander Hoischen Bert B A de Vries Han G Brunner Joris A Veltman

Nat Genet 2010 Dec 14;42(12):1109-12. Epub 2010 Nov 14.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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December 2010

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Authors:
Lisenka E L M Vissers Samarth S Bhatt Irene M Janssen Zhilian Xia Seema R Lalani Rolph Pfundt Katarzyna Derwinska Bert B A de Vries Christian Gilissen Alexander Hoischen Monika Nesteruk Barbara Wisniowiecka-Kowalnik Marta Smyk Han G Brunner Sau Wai Cheung Ad Geurts van Kessel Joris A Veltman Pawel Stankiewicz

Hum Mol Genet 2009 Oct 3;18(19):3579-93. Epub 2009 Jul 3.

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

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October 2009

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

Authors:
Anneke I den Hollander Irma Lopez Suzanne Yzer Marijke N Zonneveld Irene M Janssen Tim M Strom Jayne Y Hehir-Kwa Joris A Veltman Maarten L Arends Thomas Meitinger Maria A Musarella L Ingeborgh van den Born Gerald A Fishman Irene H Maumenee Klaus Rohrschneider Frans P M Cremers Robert K Koenekoop

Invest Ophthalmol Vis Sci 2007 Dec;48(12):5690-8

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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December 2007

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.

Authors:
Jayne Y Hehir-Kwa Michael Egmont-Petersen Irene M Janssen Dominique Smeets Ad Geurts van Kessel Joris A Veltman

DNA Res 2007 Feb 15;14(1):1-11. Epub 2007 Mar 15.

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

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February 2007

Invariance of SCL-90-R dimensions of symptom distress in patients with peri partum pelvic pain (PPPP) syndrome.

Authors:
W A Arrindell Dick P H Barelds Irene C M Janssen Femke M Buwalda Jan van der Ende

Br J Clin Psychol 2006 Sep;45(Pt 3):377-91

Heymans Institute, University of Groningen, The Netherlands.

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September 2006

Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.

Authors:
Piergiorgio Modena Elena Lualdi Federica Facchinetti Joris Veltman James F Reid Simone Minardi Irene Janssen Felice Giangaspero Marco Forni Gaetano Finocchiaro Lorenzo Genitori Flavio Giordano Riccardo Riccardi Eric F P M Schoenmakers Maura Massimino Gabriella Sozzi

J Clin Oncol 2006 Nov;24(33):5223-33

Unit of Molecular Cytogenetics, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milano, Italy.

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November 2006

Diagnostic genome profiling in mental retardation.

Authors:
Bert B A de Vries Rolph Pfundt Martijn Leisink David A Koolen Lisenka E L M Vissers Irene M Janssen Simon van Reijmersdal Willy M Nillesen Erik H L P G Huys Nicole de Leeuw Dominique Smeets Erik A Sistermans Ton Feuth Conny M A van Ravenswaaij-Arts Ad Geurts van Kessel Eric F P M Schoenmakers Han G Brunner Joris A Veltman

Am J Hum Genet 2005 Oct 30;77(4):606-16. Epub 2005 Aug 30.

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

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October 2005

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization.

Authors:
Imke Veltman Joris Veltman Irene Janssen Christina Hulsbergen-van de Kaa Wolter Oosterhuis Dominik Schneider Hans Stoop Ad Gillis Susanne Zahn Leendert Looijenga Ulrich Göbel Ad Geurts van Kessel

Genes Chromosomes Cancer 2005 Aug;43(4):367-76

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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August 2005

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.

Authors:
Margit Schraders Rolph Pfundt Huub M P Straatman Irene M Janssen Ad Geurts van Kessel Eric F P M Schoenmakers Johan H J M van Krieken Patricia J T A Groenen

Blood 2005 Feb 21;105(4):1686-93. Epub 2004 Oct 21.

Department of Pathology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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February 2005

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Authors:
Lisenka E L M Vissers Conny M A van Ravenswaaij Ronald Admiraal Jane A Hurst Bert B A de Vries Irene M Janssen Walter A van der Vliet Erik H L P G Huys Pieter J de Jong Ben C J Hamel Eric F P M Schoenmakers Han G Brunner Joris A Veltman Ad Geurts van Kessel

Nat Genet 2004 Sep 8;36(9):955-7. Epub 2004 Aug 8.

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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September 2004

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.

Authors:
Imke M Veltman Joris A Veltman Ger Arkesteijn Irene M Janssen Lisenka E Vissers Pieter J de Jong Ad Geurts van Kessel Eric F Schoenmakers

Biotechniques 2003 Nov;35(5):1066-70

Department of Human Genetics, 417, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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November 2003

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:
Lisenka E L M Vissers Bert B A de Vries Kazutoyo Osoegawa Irene M Janssen Ton Feuth Chik On Choy Huub Straatman Walter van der Vliet Erik H L P G Huys Anke van Rijk Dominique Smeets Conny M A van Ravenswaaij-Arts Nine V Knoers Ineke van der Burgt Pieter J de Jong Han G Brunner Ad Geurts van Kessel Eric F P M Schoenmakers Joris A Veltman

Am J Hum Genet 2003 Dec 18;73(6):1261-70. Epub 2003 Nov 18.

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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December 2003

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Authors:
Joris A Veltman Yvonne Jonkers Inge Nuijten Irene Janssen Walter van der Vliet Erik Huys Joris Vermeesch Griet Van Buggenhout Jean-Pierre Fryns Ronald Admiraal Paulien Terhal Didier Lacombe Ad Geurts van Kessel Dominique Smeets Eric F P M Schoenmakers Conny M van Ravenswaaij-Arts

Am J Hum Genet 2003 Jun 9;72(6):1578-84. Epub 2003 May 9.

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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June 2003

Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints.

Authors:
Daniëlle Bodmer Irene Janssen Yvonne Jonkers Eva van den Berg Trijnie Dijkhuizen Maria Debiec-Rychter Eric Schoenmakers Ad Geurts van Kessel

Cancer Genet Cytogenet 2002 Jul;136(2):95-100

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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July 2002

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.

Authors:
Joris A Veltman Eric F P M Schoenmakers Bert H Eussen Irene Janssen Gerard Merkx Brigitte van Cleef Conny M van Ravenswaaij Han G Brunner Dominique Smeets Ad Geurts van Kessel

Am J Hum Genet 2002 May 9;70(5):1269-76. Epub 2002 Apr 9.

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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May 2002

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).

Authors:
Daniëlle Bodmer Marc Eleveld Ellen Kater-Baats Irene Janssen Bert Janssen Marian Weterman Eric Schoenmakers Michael Nickerson Marston Linehan Berton Zbar Ad Geurts van Kessel

Hum Mol Genet 2002 Mar;11(6):641-9

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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March 2002