Pascal Brouillard

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Top Venues

Human molecular genetics

American journal of medical genetics. Part A

Science translational medicine

Scientific reports

This page only lists publications with an associated author ORCID identifier.

Publications

Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Annegret Holm, Matthew S Graus, Jill Wylie-Sears, Luke Borgelt, Jerry Wei Heng Tan, Sana Nasim, Long Chung, Ashish Jain, Mingwei Sun, Liang Sun, Pascal Brouillard, Ramrada Lekwuttikarn, Harry Kozakewich, Jacob Yanfei Qi, Joyce C Teng, John B Mulliken, Miikka Vikkula, Mathias Francois, Joyce Bischoff
An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma. bioRxiv : the preprint server for biology (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics (2024)
Anne-Sophie Cloos, Hélène Pollet, Amaury Stommen, Mauriane Maja, Maxime Lingurski, Benedicte Brichard, Catherine Marie Lambert, Patrick Henriet, Christophe E Pierreux, Sebastien Pyr Dit Ruys, Patrick Van Der Smissen, Miikka Vikkula, Laurent Gatto, Manon Martin, Pascal Brouillard, Didier Vertommen, Donatienne Tyteca
Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance but not maturation defects. Blood advances (2023)
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A Secker, Anna Oszmiana, Milena Babic, Kelly L Betterman, Peter J Brautigan, Melissa White, Sandra G Piltz, Paul Q Thomas, Christopher N Hahn, Matthias Rath, Ute Felbor, G Christoph Korenke, Christopher L Smith, Kathleen H Wood, Sarah E Sheppard, Denise M Adams, Ariana Kariminejad, Raphaël Helaers, Laurence M Boon, Nicole Revencu, Lynette Moore, Christopher P Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S Scott, Natasha L Harvey
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine 14 (634) (2022)
Arin K Greene, Pascal Brouillard, Christopher L Sudduth, Patrick J Smits, Dennis J Konczyk, Miikka Vikkula
EPHB4 mutation causes adult and adolescent-onset primary lymphedema. American journal of medical genetics. Part A 185 (12) (2021)
Veli-Matti Leppänen, Pascal Brouillard, Emilia A Korhonen, Tuomas Sipilä, Sawan Kumar Jha, Nicole Revencu, Veerle Labarque, Elodie Fastré, Matthieu Schlögel, Marie Ravoet, Amihood Singer, Claudia Luzzatto, Donatella Angelone, Giovanni Crichiutti, Angela D'Elia, Jaakko Kuurne, Harri Elamaa, Gou Young Koh, Pipsa Saharinen, Miikka Vikkula, Kari Alitalo
Characterization of ANGPT2 mutations associated with primary lymphedema. Science translational medicine 12 (560) (2021)
Richard Coulie, Dmitriy M Niyazov, Michael J Gambello, Elodie Fastré, Pascal Brouillard, Miikka Vikkula
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. American journal of medical genetics. Part A 185 (7) (2021)
Marie F Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L Holla, Miikka Vikkula
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis. Journal of medical genetics (2021)
Ines Martinez-Corral, Yan Zhang, Milena Petkova, Henrik Ortsäter, Sofie Sjöberg, Sandra D Castillo, Pascal Brouillard, Louis Libbrecht, Dieter Saur, Mariona Graupera, Kari Alitalo, Laurence Boon, Miikka Vikkula, Taija Mäkinen
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation. Nature communications 11 (1) (2020)
Sawan Kumar Jha, Khushbu Rauniyar, Terhi Karpanen, Veli-Matti Leppänen, Pascal Brouillard, Miikka Vikkula, Kari Alitalo, Michael Jeltsch
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1. Scientific reports 7 (1) (2017)
Aniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, Ha-Long Nguyen, Miikka Vikkula, Blanca Esthela Rios-Gonzalez, Roberto de Jesús Sandoval-Muñiz, Ana Karen Sandoval-Talamantes, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Lisette Arnaud-Lopez
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. Hematology (Amsterdam, Netherlands) 22 (8) (2017)