Author

Aurélie Thollet

Centre National de la Recherche ScientifiqueORCID 0000-0002-3776-6072Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biophysics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:deep learning· 1 Research Focus:drug response / drug discovery· 1 Assay:electrophysiology· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jérôme MontnachiD· 2 shared Michel MDW DE WAARDiD· 2 shared Vincent ProbstiD· 2 shared Achille Gregoire· 1 shared Ahmad S. AminiD· 1 shared Alex LipoviD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrew A. GraceiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jérôme MontnachORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum, Isabella Mengarelli, Matthew J. O’Neill, Fernanda M. Bosada, Yanushi Dullewe Wijeyeratne, Luis de la Higuera Romero, Maarten Kooyman, Marion Gaudin, Graziella Aquilina, Leander Beekman, Estelle Baron, Mathilde Bertrand, Zoya Kingsbury, , Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine

MeTAL enables multiparametric risk prediction for human KCNH2 variants

Bárbara Bruna Ribeiro Oliveira-Mendes, Elouan Voisin, Maxence Marbouty, Achille Gregoire, Malak Alameh, Jérôme Montnach, Aurélie Thollet, Flavien Charpentier, Isabelle Denjoy, Vincent Probst, Gildas Loussouarn, Isabelle Baró, Michel MDW DE WAARD, Rupamanjari Majumder

MeTAL links KCNH2 variant biophysical properties to ECG phenotypes, revealing nonlinear relationships and improving risk prediction for inherited arrhythmia syndromes.

bioRxiv · May 4, 2026 · PreprintBiophysics