Author

Juliette Albuisson

InsermORCID 0000-0002-8947-6499Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrien B. GeorgesiD· 1 shared Aleksander PrejbisziD· 1 shared Andrzej JanuszewicziD· 1 shared Anna BaranowskaiD· 1 shared Antoine Chédid· 1 shared Antonio Di NarzoiD· 1 shared Arshid AzarineiD· 1 shared Aurélien LorthioiriD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adrien B. GeorgesORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineCardiovascular ResearchPeer-reviewedJun 7, 2020

Rare Loss-of-Function Mutations of PTGIR identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

Adrien B. Georges, Juliette Albuisson, Takiy-Eddine Berrandou…·Nabila Bouatia‐Naji

The paper identifies rare loss-of-function mutations in PTGIR in FMD and SCAD patients, showing impaired prostacyclin receptor function and suggesting a role for prostacyclin signaling in these diseases.

33 citations

humanwhole-exome sequencing

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