Genetics of lymphatic anomalies P Brouillard, L Boon, M Vikkula The Journal of clinical investigation 124 (3), 898-904, 2014 | 377 | 2014 |
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”) P Brouillard, LM Boon, JB Mulliken, O Enjolras, M Ghassibé, ML Warman, ... The American Journal of Human Genetics 70 (4), 866-874, 2002 | 365 | 2002 |
Genetic causes of vascular malformations P Brouillard, M Vikkula Human molecular genetics 16 (R2), R140-R149, 2007 | 293 | 2007 |
A gene for inherited cutaneous venous anomalies (" glomangiomas") localizes to chromosome 1p21-22. MS Vikkula, LM Boon, P Brouillard, A Irrthum, L Karttunen, ML Warman, ... AMERICAN JOURNAL OF HUMAN GENETICS 65 (4), A17-A17, 1999 | 194* | 1999 |
A gene for inherited cutaneous venous anomalies (“glomangiomas”) localizes to chromosome 1p21-22 LM Boon, P Brouillard, A Irrthum, L Karttunen, ML Warman, R Rudolph, ... The American Journal of Human Genetics 65 (1), 125-133, 1999 | 194 | 1999 |
Vascular malformations: localized defects in vascular morphogenesis P Brouillard, M Vikkula Clinical genetics 63 (5), 340-351, 2003 | 154 | 2003 |
Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect P Brouillard, M Ghassibé, A Penington, LM Boon, A Dompmartin, ... Journal of medical genetics 42 (2), e13-e13, 2005 | 149 | 2005 |
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3 P Brouillard, L Dupont, R Helaers, R Coulie, GE Tiller, J Peeden, A Colige, ... Human molecular genetics 26 (21), 4095-4104, 2017 | 124 | 2017 |
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3 P Brouillard, L Dupont, R Helaers, R Coulie, GE Tiller, J Peeden, A Colige, ... Human Molecular Genetics 26 (21), 4095-4104, 2017 | 124 | 2017 |
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema A Mendola, MJ Schlögel, A Ghalamkarpour, A Irrthum, HL Nguyen, ... Molecular syndromology 4 (6), 257-266, 2013 | 112 | 2013 |
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1 SK Jha, K Rauniyar, T Karpanen, VM Leppänen, P Brouillard, M Vikkula, ... Scientific reports 7 (1), 4916, 2017 | 103 | 2017 |
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations M Amyere, V Aerts, P Brouillard, BAS McIntyre, FP Duhoux, M Wassef, ... The American Journal of Human Genetics 92 (2), 188-196, 2013 | 90 | 2013 |
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation I Martinez-Corral, Y Zhang, M Petkova, H Ortsäter, S Sjöberg, SD Castillo, ... Nature communications 11 (1), 2869, 2020 | 88 | 2020 |
Primary lymphoedema P Brouillard, MH Witte, RP Erickson, RJ Damstra, C Becker, I Quéré, ... Nature Reviews Disease Primers 7 (1), 77, 2021 | 84 | 2021 |
Genotypes and phenotypes of 162 families with a glomulin mutation P Brouillard, LM Boon, N Revencu, J Berg, A Dompmartin, J Dubois, ... Molecular syndromology 4 (4), 157-164, 2013 | 67 | 2013 |
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation N Revencu, E Fastre, M Ravoet, R Helaers, P Brouillard, ... Journal of medical genetics 57 (1), 48-52, 2020 | 65 | 2020 |
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib N Homayun-Sepehr, AL McCarter, R Helaers, C Galant, LM Boon, ... JCI insight 6 (15), e149831, 2021 | 62 | 2021 |
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis G Dachy, RR de Krijger, S Fraitag, I Théate, B Brichard, SB Hoffman, ... JAMA dermatology 155 (8), 946-950, 2019 | 62 | 2019 |
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis G Dachy, RR de Krijger, S Fraitag, I Théate, B Brichard, SB Hoffman, ... JAMA dermatology 155 (8), 946-950, 2019 | 62 | 2019 |
High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21–p22 P Brouillard, BR Olsen, M Vikkula Genomics 67 (1), 96-101, 2000 | 48 | 2000 |