Author

Aurélien Trimouille

Centre Hospitalier Universitaire de BordeauxORCID 0000-0002-3457-5684Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

A. Micheil InnesiD· 1 shared Adam JacksoniD· 1 shared Alessandra RenieriiD· 1 shared Alfons MacayaiD· 1 shared Alice GoldenbergiD· 1 shared Amélie PitoniD· 1 shared Amy Dameron· 1 shared Ana TöpfiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

A. Micheil InnesORCID

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2 papers

Recent·Most cited

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German M. Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez‐Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, , Stephan Ossowski

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

European Journal of Human Genetics · May 31, 2024Peer-reviewedGenetic & Genomic Medicine

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman, Karen E. Wain, Zöe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombre, Chloé Angelini, Vincent Michaud, Julien Van‐Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, , Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Journal of Medical Genetics · Dec 15, 2021Peer-reviewedGenetics