| Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects LM Messiaen, T Callens, G Mortier, D Beysen, I Vandenbroucke, ... Human mutation 15 (6), 541-555, 2000 | 658 | 2000 |
| 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 | 571 | 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 |
| An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 … M Upadhyaya, SM Huson, M Davies, N Thomas, N Chuzhanova, ... The American Journal of Human Genetics 80 (1), 140-151, 2007 | 436 | 2007 |
| Evolution and expression of FOXL2 J Cocquet, E Pailhoux, F Jaubert, N Servel, X Xia, M Pannetier, ... Journal of medical genetics 39 (12), 916-921, 2002 | 340 | 2002 |
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ... Human molecular genetics 10 (15), 1591-1600, 2001 | 326 | 2001 |
| Elucidating Distinct Roles for NF1 in Melanomagenesis O Maertens, B Johnson, P Hollstein, DT Frederick, ZA Cooper, ... Cancer discovery 3 (3), 338-349, 2013 | 316 | 2013 |
| Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas A Piotrowski, J Xie, YF Liu, AB Poplawski, AR Gomes, P Madanecki, C Fu, ... Nature genetics 46 (2), 182-187, 2014 | 296 | 2014 |
| FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ... The American Journal of Human Genetics 72 (2), 478-487, 2003 | 295 | 2003 |
| 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 |
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ... Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004 | 275 | 2004 |
| NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome M Hölzel, S Huang, J Koster, I Øra, A Lakeman, H Caron, W Nijkamp, ... Cell 142 (2), 218-229, 2010 | 234 | 2010 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 226 | 2018 |
| Clinical and mutational spectrum of neurofibromatosis type 1–like syndrome L Messiaen, S Yao, H Brems, T Callens, A Sathienkijkanchai, E Denayer, ... Jama 302 (19), 2111-2118, 2009 | 225 | 2009 |
| High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype … K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ... Human mutation 36 (11), 1052-1063, 2015 | 210 | 2015 |
| Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria SR Plotkin, JO Blakeley, DG Evans, CO Hanemann, TJM Hulsebos, ... American journal of medical genetics Part A 161 (3), 405-416, 2013 | 201 | 2013 |
| Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination M Steklov, S Pandolfi, MF Baietti, A Batiuk, P Carai, P Najm, M Zhang, ... Science 362 (6419), 1177-1182, 2018 | 191 | 2018 |
| Double inactivation of NF1 in tibial pseudarthrosis DA Stevenson, H Zhou, S Ashrafi, LM Messiaen, JC Carey, JL D’Astous, ... The American journal of human genetics 79 (1), 143-148, 2006 | 186 | 2006 |
| Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis LT McGillicuddy, JA Fromm, PE Hollstein, S Kubek, R Beroukhim, ... Cancer cell 16 (1), 44-54, 2009 | 184 | 2009 |
| Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1 O Maertens, S De Schepper, J Vandesompele, H Brems, I Heyns, ... The American Journal of Human Genetics 81 (2), 243-251, 2007 | 183 | 2007 |