Concepedia

Julie Soblet

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Publications

15

Citations

1.3K

H-Index

13

Active since

2013

Affiliations

Queen Fabiola Children's University Hospital(Current)

Erasmus Hospital

Université Libre de Bruxelles

Cliniques Universitaires Saint-Luc

UCLouvain

Julie Soblet is an author at Queen Fabiola Children's University Hospital specializing in genetics, genetic disorders, and molecular genetics.

ORCID

Publications per year

2013–2023

15

Publications

15

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 244 citations

, , +6

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

Elisa Boscolo, Nisha Limaye, Lan Huang et al. · Journal of Clinical Investigation · 2015 · 240 citations · Full text

, , +15

Variable Somatic <b><i>TIE2</i></b> Mutations in Half of Sporadic Venous Malformations

Julie Soblet, Nisha Limaye, Mélanie Uebelhoer et al. · Molecular Syndromology · 2013 · 175 citations

, , +17

<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Carla Marini, Alessandro Porro, Agnès Rastetter et al. · Brain · 2018 · 137 citations · Full text

, , +17

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Mélanie Uebelhoer, Marjut Nätynki, J. Kangas et al. · Human Molecular Genetics · 2013 · 124 citations · Full text

, , +17

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