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Pascal Brouillard

Observed names: Brouillard, Pascal, P Brouillard, P. Brouillard
Observed institutions: University of Vermont, Great Ormond Street Hospital, Centre Hospitalier Universitaire de Lille, St Vincent's Hospital Melbourne, de Duve Institute, Hôpital Lariboisière, UCLouvain, KU Leuven
ORCID: 0000-0001-9548-8229
Observed ORCID: 0000-0001-9548-8229
OpenAlex ID: A5013750626
Genetics of lymphatic anomalies
2014 · Pascal Brouillard, Laurence Boon, et al. · Journal of Clinical Investigation · 351
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Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)
2002 · Pascal Brouillard, Laurence M. Boon, et al. · The American Journal of Human Genetics · 334
Genetic causes of vascular malformations
2007 · P. Brouillard, M. Vikkula · Human Molecular Genetics · 267
A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p21-22
1999 · Laurence M. Boon, Pascal Brouillard, et al. · The American Journal of Human Genetics · 173
Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
2005 · P Brouillard, M Ghassibé, et al. · Journal of Medical Genetics · 146
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Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3
2017 · Pascal Brouillard, Laura Dupont, et al. · Human Molecular Genetics · 126
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Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations
2013 · Mustapha Amyere, Virginie Aerts, et al. · The American Journal of Human Genetics · 122
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Vascular malformations: localized defects in vascular morphogenesis
2003 · P Brouillard, M Vikkula · Clinical Genetics · 117
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation
2020 · Ines Martinez-Corral, Yan Zhang, et al. · Nature Communications · 114
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Primary lymphoedema
2021 · Pascal Brouillard, Marlys H. Witte, et al. · Nature Reviews Disease Primers · 113
Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema
2013 · A. Mendola, M.J. Schlögel, et al. · Molecular Syndromology · 105
Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations
2023 · Emmanuel Seront, An Van Damme, et al. · JCI Insight · 90
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1
2017 · Sawan Kumar Jha, Khushbu Rauniyar, et al. · Scientific Reports · 87
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KRAS-driven model of Gorham-Stout disease effectively treated with trametinib
2021 · Nassim Homayun-Sepehr, Anna L. McCarter, et al. · JCI Insight · 80
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RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation
2019 · Nicole Revencu, Elodie Fastre, et al. · Journal of Medical Genetics · 77
Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis
2019 · Guillaume Dachy, Ronald R. de Krijger, et al. · JAMA Dermatology · 77
Genotypes and Phenotypes of 162 Families with a Glomulin Mutation
2013 · P. Brouillard, L.M. Boon, et al. · Molecular Syndromology · 75
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
2021 · Pascal Brouillard, Matthieu J. Schlögel, et al. · Orphanet Journal of Rare Diseases · 63
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Characterization of ANGPT2 mutations associated with primary lymphedema
2020 · Veli-Matti Leppänen, Pascal Brouillard, et al. · Science Translational Medicine · 49
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
2022 · Alicia B. Byrne, Pascal Brouillard, et al. · Science Translational Medicine · 43
Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene
2014 · S. Moalem, P. Brouillard, et al. · Clinical Genetics · 42
Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse
2003 · Brendan A.S McIntyre, Pascal Brouillard, et al. · Gene Expression Patterns · 42
High-Resolution Physical and Transcript Map of the Locus for Venous Malformations with Glomus Cells (VMGLOM) on Chromosome 1p21–p22
2000 · Pascal Brouillard, Bjorn R Olsen, et al. · Genomics · 41
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC
2001 · Alexandre Irrthum, Pascal Brouillard, et al. · European Journal of Human Genetics · 39
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
2015 · Matthieu J Schlögel, Antonella Mendola, et al. · Orphanet Journal of Rare Diseases · 34
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Works count: 93
Citation count: 3,160
H-index: 27
I10-index: 40
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