Aurelien Trimouille

17PUBLICATIONS
171CO-AUTHORS
Infant and child healthFoetal development and medicineNeurogeneticsGenetics not elsewhere classifiedMolecular targets
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Publications (17)

|Jul 07, 2026
Elamipretide in pediatric Barth syndrome: from heart failure to school return.

|Jun 07, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Silvestre Cuinat, Chloé Quélin, Claire Effray

|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Thomas Husson, François Lecoquierre, Gaël Nicolas

|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.

Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion

|Dec 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability.

Audrey Schalk, Margot A Cousin, Nikita R Dsouza

|Sep 21, 2021
Implication of folate deficiency in CYP2U1 loss of function.

Claire Pujol, Anne Legrand, Livia Parodi

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Frequent Collaborators

3 joint publications

Frederic Tran Mau-Them

3 joint publications

Caroline Rooryck

3 joint publications

Angèle Tingaud-Sequeira

2 joint publications

Elise Brischoux-Boucher