| 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 | 972 | 1998 |
| A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) CJ Gallione, GM Repetto, E Legius, AK Rustgi, SL Schelley, S Tejpar, ... The Lancet 363 (9412), 852-859, 2004 | 882 | 2004 |
| Soft tissue and visceral sarcomas: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up☆ A Gronchi, AB Miah, AP Dei Tos, N Abecassis, J Bajpai, S Bauer, ... Annals of Oncology 32 (11), 1348-1365, 2021 | 717 | 2021 |
| The NF1 tumor suppressor critically regulates TSC2 and mTOR CM Johannessen, EE Reczek, MF James, H Brems, E Legius, ... Proceedings of the National Academy of Sciences 102 (24), 8573-8578, 2005 | 681 | 2005 |
| Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation E Legius, L Messiaen, P Wolkenstein, P Pancza, RA Avery, Y Berman, ... Genetics in Medicine 23 (8), 1506-1513, 2021 | 570 | 2021 |
| Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype H Brems, M Chmara, M Sahbatou, E Denayer, K Taniguchi, R Kato, ... Nature genetics 39 (9), 1120-1126, 2007 | 543 | 2007 |
| PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies T De Raedt, E Beert, E Pasmant, A Luscan, H Brems, N Ortonne, K Helin, ... Nature 514 (7521), 247-251, 2014 | 487 | 2014 |
| Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis E Legius, DA Marchuk, FS Collins, TW Glover Nature genetics 3 (2), 122-126, 1993 | 479 | 1993 |
| Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 H Brems, E Beert, T de Ravel, E Legius The lancet oncology 10 (5), 508-515, 2009 | 424 | 2009 |
| Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. A Swillen, K Devriendt, E Legius, B Eyskens, M Dumoulin, M Gewillig, ... Journal of Medical Genetics 34 (6), 453-458, 1997 | 421 | 1997 |
| Gastrointestinal stromal tumours: ESMO–EURACAN–GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up PG Casali, JY Blay, N Abecassis, J Bajpai, S Bauer, R Biagini, S Bielack, ... Annals of oncology 33 (1), 20-33, 2022 | 393 | 2022 |
| Cognitive function and academic performance in neurofibrornatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force KN North, V Riccardi, C Samango-Sprouse, R Ferner, B Moore, E Legius, ... Neurology 48 (4), 1121-1127, 1997 | 359 | 1997 |
| Elevated risk for MPNST in NF1 microdeletion patients T De Raedt, H Brems, P Wolkenstein, D Vidaud, S Pilotti, F Perrone, ... The American Journal of Human Genetics 72 (5), 1288-1292, 2003 | 346 | 2003 |
| PTPN11 mutations in LEOPARD syndrome E Legius, C Schrander-Stumpel, E Schollen, C Pulles-Heintzberger, ... Journal of medical genetics 39 (8), 571-574, 2002 | 326 | 2002 |
| Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia JR Hurvitz, WM Suwairi, W Van Hul, H El-Shanti, A Superti-Furga, ... Nature genetics 23 (1), 94-98, 1999 | 319 | 1999 |
| Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients E Claes, G Evers‐Kiebooms, A Boogaerts, M Decruyenaere, L Denayer, ... American Journal of Medical Genetics Part A 116 (1), 11-19, 2003 | 298 | 2003 |
| Bone sarcomas: ESMO–EURACAN–GENTURIS–ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up SJ Strauss, AM Frezza, N Abecassis, J Bajpai, S Bauer, R Biagini, ... Annals of Oncology 32 (12), 1520-1536, 2021 | 292 | 2021 |
| CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, ... European Journal of Human Genetics 13 (3), 302-308, 2005 | 286 | 2005 |
| Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients O Maertens, H Prenen, M Debiec-Rychter, A Wozniak, R Sciot, P Pauwels, ... Human molecular genetics 15 (6), 1015-1023, 2006 | 282 | 2006 |
| Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors E Beert, H Brems, B Daniëls, I De Wever, F Van Calenbergh, ... Genes, Chromosomes and Cancer 50 (12), 1021-1032, 2011 | 272 | 2011 |