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Geert Vandeweyer
Geert Vandeweyer
Verified email at uantwerpen.be - Homepage
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Year
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515, 2017
4242017
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
2912009
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380, 2014
2902014
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome.
N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ...
European journal of medical genetics 52 (2-3), 94, 2009
2112009
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Z Iqbal, G Vandeweyer, M van der Voet, AM Waryah, MY Zahoor, ...
Human molecular genetics 22 (10), 1960-1970, 2013
1612013
Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes
DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ...
Journal of medical genetics 47 (5), 299-311, 2010
1562010
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature neuroscience 20 (8), 1043, 2017
1392017
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ...
The American Journal of Human Genetics 99 (1), 174-187, 2016
1352016
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
NA Bolar, AV Vanlander, C Wilbrecht, N Van der Aa, J Smet, B De Paepe, ...
Human molecular genetics 22 (13), 2590-2602, 2013
1252013
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
B Ogunjimi, SY Zhang, KB Sřrensen, KA Skipper, M Carter-Timofte, ...
The Journal of Clinical Investigation 127 (9), 3543-3556, 2017
1082017
Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
I Ratbi, KD Falkenberg, M Sommen, N Al-Sheqaih, S Guaoua, ...
The American Journal of Human Genetics 97 (4), 535-545, 2015
1072015
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
D Schepers, G Tortora, H Morisaki, G MacCarrick, M Lindsay, D Liang, ...
Human mutation, 2018
1042018
Performant Mutation Identification Using Targeted Next‐Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes
D Proost, G Vandeweyer, JAN Meester, S Salemink, M Kempers, ...
Human mutation 36 (8), 808-814, 2015
992015
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
JAN Meester, G Vandeweyer, I Pintelon, M Lammens, L Van Hoorick, ...
Genetics in Medicine 19 (4), 386, 2017
952017
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological Psychiatry, 2018
942018
Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1
T Vandamme, M Peeters, F Dogan, P Pauwels, E Van Assche, M Beyens, ...
Journal of molecular endocrinology 54 (2), 137-147, 2015
942015
Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort: SMAD6 as an important contributor
E Gillis, AA Kumar, I Luyckx, C Preuss, E Cannaerts, G van de Beek, ...
Frontiers in physiology 8, 400, 2017
932017
DNA diagnostics of hereditary hearing loss: a targeted resequencing approach combined with a mutation classification system
M Sommen, I Schrauwen, G Vandeweyer, N Boeckx, JJ Corneveaux, ...
Human mutation 37 (8), 812-819, 2016
842016
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
G Vandeweyer, C Helsmoortel, A Van Dijck, AT Vulto‐van Silfhout, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
792014
VariantDB: A flexible annotation and filtering portal for next generation sequencing data
G Vandeweyer, L Van Laer, B Loeys, T Van Den Bulcke, RF Kooy
Genome Medicine 6 (10), 74, 2014
622014
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