Mathieu Quinodoz

11PUBLICATIONS
259CO-AUTHORS
Chemical and thermal processes in energy and combustionNeurology and neuromuscular diseasesMultiphysics flows (incl. multiphase and reacting flows)Epigenetics (incl. genome methylation and epigenomics)Genomics
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Publications (11)

|Jul 29, 2026
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 02, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Mathieu Quinodoz, Sonja Rutz, Virginie Peter

|Mar 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Virginie G Peter, Karolina Kaminska, Cristina Santos

|Nov 03, 2022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki

|Aug 10, 2022
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.

Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig

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Frequent Collaborators

10 joint publications

Carlo Rivolta

4 joint publications

Virginie Peter

4 joint publications

Andrea Superti-Furga

3 joint publications

Karolina Kaminska