| SOX10 mutations in patients with Waardenburg-Hirschsprung disease V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ... Nature genetics 18 (2), 171-173, 1998 | 949 | 1998 |
| Guidelines for diagnostic next-generation sequencing G Matthijs, E Souche, M Alders, A Corveleyn, S Eck, I Feenstra, V Race, ... European Journal of Human Genetics 24 (1), 2, 2016 | 632 | 2016 |
| Erythromycin is a motilin receptor agonist T Peeters, G Matthijs, I Depoortere, T Cachet, J Hoogmartens, ... American Journal of Physiology-Gastrointestinal and Liver Physiology 257 (3 …, 1989 | 533 | 1989 |
| Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia A Irrthum, K Devriendt, D Chitayat, G Matthijs, C Glade, PM Steijlen, ... The American Journal of Human Genetics 72 (6), 1470-1478, 2003 | 478 | 2003 |
| Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles SL Nolin, WT Brown, A Glicksman, GE Houck Jr, AD Gargano, A Sullivan, ... The American Journal of Human Genetics 72 (2), 454-464, 2003 | 467 | 2003 |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32, 2008 | 415 | 2008 |
| Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)(vol 16, pg 88, 1997) G Matthijs NATURE GENETICS 16 (3), 316-316, 1997 | 415* | 1997 |
| Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) G Matthijs, E Schollen, E Pardon, M Veiga-Da-Cunha, J Jaeken, ... Nature genetics 16 (1), 88, 1997 | 415 | 1997 |
| Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions M Simoni, E Bakker, MCM Eurlings, G Matthijs, E Moro, CR Muller, ... international journal of andrology 22 (5), 292-299, 1999 | 388 | 1999 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 380 | 2017 |
| Congenital disorders of glycosylation: a rapidly expanding disease family J Jaeken, G Matthijs Annu. Rev. Genomics Hum. Genet. 8, 261-278, 2007 | 335 | 2007 |
| Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure K Devriendt, C Vanhole, G Matthijs, F de Zegher New England Journal of Medicine 338 (18), 1317-1318, 1998 | 278 | 1998 |
| Multiple phenotypes in phosphoglucomutase 1 deficiency LC Tegtmeyer, S Rust, M van Scherpenzeel, BG Ng, ME Losfeld, S Timal, ... New England Journal of Medicine 370 (6), 533-542, 2014 | 274 | 2014 |
| The mutational spectrum of human malignant autosomal recessive osteopetrosis C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ... Human molecular genetics 10 (17), 1767-1773, 2001 | 269 | 2001 |
| Congenital disorders of glycosylation: a review S Grünewald, G Matthijs, J Jaeken Pediatric research 52 (5), 618, 2002 | 268 | 2002 |
| Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation K Freson, K Devriendt, G Matthijs, A Van Hoof, R De Vos, C Thys, ... Blood 98 (1), 85-92, 2001 | 254 | 2001 |
| Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin A La Gerche, C Robberecht, C Kuiperi, D Nuyens, R Willems, T de Ravel, ... Heart 96 (16), 1268-1274, 2010 | 249 | 2010 |
| A standardized framework for the validation and verification of clinical molecular genetic tests CJ Mattocks, MA Morris, G Matthijs, E Swinnen, A Corveleyn, E Dequeker, ... European Journal of Human Genetics 18 (12), 1276, 2010 | 247 | 2010 |
| A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases P de Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, BM Gabriel, H Journel, ... Journal of medical genetics 38 (1), 14-19, 2001 | 242 | 2001 |
| Congenital disorders of glycosylation (CDG): Quo vadis? R Péanne, P de Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ... European journal of medical genetics, 2017 | 241 | 2017 |
