Pascal Brouillard

UCLouvain

Belgium

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Research Interests

Immunology

30%

Cell Biology

40%

Lymphology

40%

Rare Disease

40%

Tuberous Sclerosis

40%

Cancer Biology

30%

Birth Defect

30%

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Articles12

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)

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Year:

2024

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

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Year:

2024

BiallelicANGPT2loss-of-function causes severe early-onset non-immune hydrops fetalis

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Year:

2023

Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations

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Year:

2023

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

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Year:

2022

Primary lymphoedema

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Year:

2021

EPHB4 mutation causes adult and adolescent‐onset primary lymphedema

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Year:

2021

Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

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Year:

2021

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

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Year:

2021

Characterization of ANGPT2 mutations associated with primary lymphedema

Article Link

Year:

2020

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

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Year:

2020

First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing

Article Link

Year:

2020

Collaborators12

Miikka Vikkula

Full Professor of Human Genetics

Université catholique de Louvain

BELGIUM

Matthias Rath

Professor for Human Genetics

MSH Medical School Hamburg University of Applied Sciences and Medical University

GERMANY

Janette Kazenwadel

University of South Australia

AUSTRALIA

Kelly Betterman

University of South Australia

AUSTRALIA

Philippe Grellier

Professeur

Muséum National d'Histoire Naturelle

FRANCE

Drew Sutton

University of South Australia

AUSTRALIA

Peter Brautigan

University of South Australia

AUSTRALIA

Isabelle Quere

Professor

University of Montpellier

FRANCE

Pipsa Saharinen

Professor

University of Helsinki

FINLAND

Genevieve Secker

University of South Australia

AUSTRALIA

Christopher Hahn

University of South Australia

AUSTRALIA

Natasha L. Harvey

AUSTRALIA

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