Publications by authors named "Pascal Brouillard"

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Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.
Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet

Hum Mutat· December 2025

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Targeting uPARAP Modifies Lymphatic Vessel Architecture and Attenuates Lymphedema.
Fabrice Gucciardo, Alizée Lebeau, Sébastien Pirson, Florence Buntinx, Elitsa Ivanova, Pascal Brouillard

Circulation· May 2025

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An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma.
Annegret Holm, Matthew S Graus, Jill Wylie-Sears, Jerry Wei Heng Tan, Maya Alvarez-Harmon, Pascal Brouillard

J Clin Invest· February 2025

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Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV).
Martina De Bortoli, Angela Queisser, Van Cuong Pham, Anne Dompmartin, Raphaël Helaers, Pascal Brouillard

J Invest Dermatol· September 2024

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A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.
Sophie Welsch, Antoine Harvengt, Paola Gallo, Manon Martin, Dominique Beckers, Pascal Brouillard

Diabetes Metab J· September 2024

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Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Pascal Brouillard

Hum Mol Genet· July 2024

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Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
Pascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, Marko Hyytiäinen, Sandrine Mestre

J Clin Invest· May 2024

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An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma.
Annegret Holm, Matthew S Graus, Jill Wylie-Sears, Luke Borgelt, Jerry Wei Heng Tan, Pascal Brouillard

bioRxiv· February 2024

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Ureteropelvic junction obstruction with primary lymphoedema associated with variants.
Murat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, Guido Giacalone, Raphaël Helaers, Pascal Brouillard

J Med Genet· November 2023

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Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations.
Emmanuel Seront, An Van Damme, Catherine Legrand, Annouk Bisdorff-Bresson, Philippe Orcel, Pascal Brouillard

JCI Insight· November 2023

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Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects.
Anne-Sophie Cloos, Hélène Pollet, Amaury Stommen, Mauriane Maja, Maxime Lingurski, Pascal Brouillard

Blood Adv· September 2023

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Biallelic loss-of-function causes severe early-onset non-immune hydrops fetalis.
Marie F Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel

J Med Genet· January 2023

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Pathogenic variants in cause recessive central conducting lymphatic anomaly with lymphedema.
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi

Sci Transl Med· March 2022

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EPHB4 mutation causes adult and adolescent-onset primary lymphedema.
Arin K Greene, Pascal Brouillard, Christopher L Sudduth, Patrick J Smits, Dennis J Konczyk

Am J Med Genet A· December 2021

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Primary lymphoedema.
Pascal Brouillard, Marlys H Witte, Robert P Erickson, Robert J Damstra, Corinne Becker

Nat Rev Dis Primers· October 2021

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KRAS-driven model of Gorham-Stout disease effectively treated with trametinib.
Nassim Homayun-Sepehr, Anna L McCarter, Raphaël Helaers, Christine Galant, Laurence M Boon, Pascal Brouillard

JCI Insight· August 2021

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Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Richard Coulie, Dmitriy M Niyazov, Michael J Gambello, Elodie Fastré, Pascal Brouillard

Am J Med Genet A· July 2021

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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.
Pascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser

Orphanet J Rare Dis· June 2021

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Characterization of mutations associated with primary lymphedema.
Veli-Matti Leppänen, Pascal Brouillard, Emilia A Korhonen, Tuomas Sipilä, Sawan Kumar Jha

Sci Transl Med· September 2020

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Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations.
Patrick Hansmann, Anne Brückner, Stephan Kiontke, Bianca Berkenfeld, Guiscard Seebohm, Pascal Brouillard

Structure· August 2020

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Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.
Hélène Pollet, Anne-Sophie Cloos, Amaury Stommen, Juliette Vanderroost, Louise Conrard, Pascal Brouillard

Biomolecules· July 2020

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Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation.
Ines Martinez-Corral, Yan Zhang, Milena Petkova, Henrik Ortsäter, Sofie Sjöberg, Pascal Brouillard

Nat Commun· June 2020

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Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Cédric Van Marcke, Raphaël Helaers, Anne De Leener, Ahmad Merhi, Céline A Schoonjans, Pascal Brouillard

Breast Cancer Res· April 2020

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First Draft Genome of the Trypanosomatid through MinION Oxford Nanopore Technology and Illumina Sequencing.
Claudia M d'Avila-Levy, Bertrand Bearzatto, Jérôme Ambroise, Raphaël Helaers, Anzhelika Butenko, Pascal Brouillard

Trop Med Infect Dis· February 2020

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mosaic mutations in patients with capillary malformation-arteriovenous malformation.
Nicole Revencu, Elodie Fastre, Marie Ravoet, Raphaël Helaers, Pascal Brouillard

J Med Genet· January 2020

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