Author

Florent Soubrier

InsermORCID 0000-0003-2571-7932Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Mélanie EyriesiD· 4 shared Allan LawrieiD· 3 shared Anton Vonk NoordegraafiD· 3 shared Barbara Girerd· 3 shared Carmen Treacy· 3 shared Christopher J. RhodesiD· 3 shared Colin ChurchiD· 3 shared David Gerard KielyiD· 3 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Mélanie EyriesORCID

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4 papers

Recent·Most cited

Molecular Biologynpj Genomic MedicinePeer-reviewedOct 17, 2023

Novel uAUG creating variants in the 5UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

Omar Soukarieh, Emmanuelle Tillet, Carole Proust…·David‐Alexandre Trégouët

This paper identifies two novel 5UTR ENG variants in HHT patients that create uAUGs, leading to uoORFs and reduced ENG protein levels and function.

11 citations

humanexperimental assay

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GeneticsGenome MedicinePeer-reviewedMay 10, 2021

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

Na Zhu, Emilia M. Swietlik, Carrie L. Welch…·National Cohort Study of Idiopathic and Heritable PAH

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

84 citationstop 1%

humanwhole-exome sequencing

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GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

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GeneticsNature CommunicationsPeer-reviewedApr 11, 2018

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda…·Nicholas W. Morrell

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

380 citationstop 1%

humanwhole-genome sequencing

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