Wouter Steyaert

Wouter Steyaert

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Wouter Steyaert

Wouter Steyaert

Publications by authors named "Wouter Steyaert"

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21Publications

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Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.

Am J Med Genet A 2019 Dec 9;179(12):2494-2499. Epub 2019 Oct 9.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.61377DOI Listing
December 2019

BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.

Methods Mol Biol 2018 ;1865:83-90

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://link.springer.com/10.1007/978-1-4939-8784-9_6
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http://dx.doi.org/10.1007/978-1-4939-8784-9_6DOI Listing
May 2019

Future perspectives of genome-scale sequencing.

Acta Clin Belg 2018 Feb;73(1):7-10

a Center for Medical Genetics , Ghent University Hospital , Ghent , Belgium.

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http://dx.doi.org/10.1080/17843286.2017.1413809DOI Listing
February 2018

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38135DOI Listing
April 2017

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Dis Markers 2015 4;2015:828970. Epub 2015 Oct 4.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1155/2015/828970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609397PMC
July 2016

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

J Invest Dermatol 2015 Apr 29;135(4):992-998. Epub 2014 Sep 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378258PMC
April 2015

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Neurology 2015 Apr 3;84(17):1760-6. Epub 2015 Apr 3.

From the Department of Neurology (P.S., B.D.) and the Center for Medical Genetics (T.V.D., W.S., A.W., A.D.P., P.J.C., B.D.), Ghent University Hospital, Belgium; and Inserm U1172, Centre de Recherches J-P Aubert (B.S.), and Inserm U1167, Institut Pasteur de Lille (B.D.), Université de Lille, France.

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http://www.neurology.org/content/84/17/1760.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001521DOI Listing
April 2015

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Mol Genet Metab 2014 Nov 8;113(3):230-5. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140027
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http://dx.doi.org/10.1016/j.ymgme.2014.09.001DOI Listing
November 2014