Author

Heather L. Gornik

Case Western Reserve UniversityORCID 0000-0002-5849-4010Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adrien B. GeorgesiD· 2 shared Aleksander PrejbisziD· 2 shared Andrzej JanuszewicziD· 2 shared Aurélien LorthioiriD· 2 shared Daniella L. Kadian‐DodoviD· 2 shared Délia Dupré· 2 shared Jason Ciril KovaciciD· 2 shared Jeffrey W. OliniD· 2 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adrien B. GeorgesORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

Adrien B. Georges, Min‐Lee Yang, Takiy-Eddine Berrandou, Mark K. Bakker, Ozan Dikilitas, Soto Romuald Kiando, Lijiang Ma, Benjamin A. Satterfield, Sebanti Sengupta, Mengyao Yu, Jean‐François Deleuze, Délia Dupré, Kristina L. Hunker, Sergiy Kyryachenko, Lu Liu, , Nabila Bouatia‐Naji

medRxiv · Sep 16, 2020 · PreprintGenetic & Genomic Medicine

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

Adrien B. Georges, Juliette Albuisson, Takiy-Eddine Berrandou, Délia Dupré, Aurélien Lorthioir, Valentina d’Escamard, Antonio Di Narzo, Daniella L. Kadian‐Dodov, Jeffrey W. Olin, Ewa Warchoł-Celińska, Aleksander Prejbisz, Andrzej Januszewicz, Patrick Bruneval, Anna Baranowska, Tom R. Webb, , 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.

Cardiovascular Research · Jun 7, 2020Peer-reviewedGenetic & Genomic Medicine