| 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 | 424 | 2017 |
| 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 | 291 | 2009 |
| 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 | 290 | 2014 |
| 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 | 211 | 2009 |
| 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 | 161 | 2013 |
| 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 | 156 | 2010 |
| 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 | 139 | 2017 |
| 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 | 135 | 2016 |
| 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 | 125 | 2013 |
| Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections B Ogunjimi, SY Zhang, KB Sørensen, KA Skipper, M Carter-Timofte, ... The Journal of Clinical Investigation 127 (9), 3543-3556, 2017 | 108 | 2017 |
| 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 | 107 | 2015 |
| 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 | 104 | 2018 |
| 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 | 99 | 2015 |
| 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 | 95 | 2017 |
| 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 | 94 | 2018 |
| 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 | 94 | 2015 |
| 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 | 93 | 2017 |
| 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 | 84 | 2016 |
| 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 | 79 | 2014 |
| 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 | 62 | 2014 |
Frank KooyProfessor in Cognitive GeneticsVerified email at uantwerpen.be
