Publications by authors named "Sabine Gijsen"

7Publications

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Authors:
Raman Kumar Mark A Corbett Nicholas J C Smith Lachlan A Jolly Chuan Tan Damien J Keating Michael D Duffield Toshihiko Utsumi Koko Moriya Katherine R Smith Alexander Hoischen Kim Abbott Michael G Harbord Alison G Compton Joshua A Woenig Peer Arts Michael Kwint Nienke Wieskamp Sabine Gijsen Joris A Veltman Melanie Bahlo Joseph G Gleeson Eric Haan Jozef Gecz

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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April 2015

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.

Authors:
Zafar Iqbal Kornelia Neveling Attia Razzaq Mohsin Shahzad Muhammad Yasir Zahoor Muhammad Qasim Christian Gilissen Nienke Wieskamp Michael P Kwint Sabine Gijsen Arjan P M de Brouwer Joris A Veltman Sheikh Riazuddin Hans van Bokhoven

Arch Med Res 2012 May 3;43(4):312-6. Epub 2012 Mar 3.

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

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May 2012

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Authors:
Jean-Baptiste Rivière Bregje W M van Bon Alexander Hoischen Stanislav S Kholmanskikh Brian J O'Roak Christian Gilissen Sabine Gijsen Christopher T Sullivan Susan L Christian Omar A Abdul-Rahman Joan F Atkin Nicolas Chassaing Valerie Drouin-Garraud Andrew E Fry Jean-Pierre Fryns Karen W Gripp Marlies Kempers Tjitske Kleefstra Grazia M S Mancini Małgorzata J M Nowaczyk Conny M A van Ravenswaaij-Arts Tony Roscioli Michael Marble Jill A Rosenfeld Victoria M Siu Bert B A de Vries Jay Shendure Alain Verloes Joris A Veltman Han G Brunner M Elizabeth Ross Daniela T Pilz William B Dobyns

Nat Genet 2012 Feb 26;44(4):440-4, S1-2. Epub 2012 Feb 26.

Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA.

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February 2012

Next-generation genetic testing for retinitis pigmentosa.

Authors:
Kornelia Neveling Rob W J Collin Christian Gilissen Ramon A C van Huet Linda Visser Michael P Kwint Sabine J Gijsen Marijke N Zonneveld Nienke Wieskamp Joep de Ligt Anna M Siemiatkowska Lies H Hoefsloot Michael F Buckley Ulrich Kellner Kari E Branham Anneke I den Hollander Alexander Hoischen Carel Hoyng B Jeroen Klevering L Ingeborgh van den Born Joris A Veltman Frans P M Cremers Hans Scheffer

Hum Mutat 2012 Jun 19;33(6):963-72. Epub 2012 Mar 19.

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

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June 2012

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Authors:
Alejandro Estrada-Cuzcano Kornelia Neveling Susanne Kohl Eyal Banin Ygal Rotenstreich Dror Sharon Tzipora C Falik-Zaccai Stephanie Hipp Ronald Roepman Bernd Wissinger Stef J F Letteboer Dorus A Mans Ellen A W Blokland Michael P Kwint Sabine J Gijsen Ramon A C van Huet Rob W J Collin H Scheffer Joris A Veltman Eberhart Zrenner Anneke I den Hollander B Jeroen Klevering Frans P M Cremers

Am J Hum Genet 2012 Jan 15;90(1):102-9. Epub 2011 Dec 15.

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

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January 2012

RAS/RAF pathway activation in gliomas: the result of copy number gains rather than activating mutations.

Authors:
Judith Jeuken Caroline van den Broecke Sabine Gijsen Sandra Boots-Sprenger Pieter Wesseling

Acta Neuropathol 2007 Aug 23;114(2):121-33. Epub 2007 Jun 23.

Department of Pathology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500, Nijmegen, The Netherlands.

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August 2007

Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors.

Authors:
Judith Jeuken Sandra Cornelissen Sandra Boots-Sprenger Sabine Gijsen Pieter Wesseling

J Mol Diagn 2006 Sep;8(4):433-43

Department of Pathology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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September 2006