Author

Frederic Pont

University of Geneva

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Frank G. van SteenbeekiD· 1 shared Isabelle SchepensiD· 1 shared Julie WackeriD· 1 shared Maurice BeghettiiD· 1 shared Periklis MakrythanasisiD· 1 shared Raphael JoyeiD· 1 shared Valérie A. McLiniD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Frank G. van SteenbeekORCID

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1 paper

Recent·Most cited

Genetic hallmarks of patients with congenital portosystemic shunts and portopulmonary hypertension: protocol for a multicentre exploratory study

Isabelle Schepens, Julie Wacker, Frederic Pont, Frank G. van Steenbeek, Raphael Joye, Maurice Beghetti, Periklis Makrythanasis, Valérie A. McLin

This paper outlines a protocol to identify genetic variants associated with portopulmonary hypertension in congenital portosystemic shunt patients using whole-genome sequencing and family-based analyses.

medRxiv · Oct 28, 2026 · PreprintGenetic & Genomic Medicine