Mathieu Quinodoz
10PUBLICATIONS
250CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (10)
Sort by Publication Date:
|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 <i>HMX1</i> in two siblings with oculoauricular syndrome.Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig
|Mar 25, 2022
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.Katya Nardou, Michael Nicolas, Fabien Kuttler
Pageof 2
Frequent Collaborators
9 joint publications
Carlo Rivolta
4 joint publications
Virginie Peter
4 joint publications
Andrea Superti-Furga
2 joint publications
Karolina Kaminska
2 joint publications
Rosanna Pescini Gobert
2 joint publications
Giacomo Calzetti
2 joint publications
Cristina Santos
2 joint publications
Mukhtar Ullah
2 joint publications
Katarina Cisarova
2 joint publications
Pierre-Yves Bochud
