Virginie Peter

10PUBLICATIONS
37CO-AUTHORS
Multiphysics flows (incl. multiphase and reacting flows)Epigenetics (incl. genome methylation and epigenomics)Vision scienceGene mappingMolecular targets
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Publications (10)

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

Mathieu Quinodoz, Sonja Rutz, Virginie Peter

|Jan 08, 2024
Genetic profile of syndromic retinitis pigmentosa in Portugal.

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira

|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

|Jul 29, 2022
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.

Cristina Santos, Andreia Almeida, Rita Pinto

|Apr 28, 2022
A novel phenotype associated with the R162W variant in the KCNJ13 gene.

Marion Schroeder, Virginie G Peter, Lotta Gränse

|Jan 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Mathieu Quinodoz, Virginie G Peter, Nicola Bedoni

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Frequent Collaborators

10 joint publications

Carlo Rivolta

5 joint publications

Luísa Coutinho-Santos

4 joint publications

Mathieu Quinodoz

4 joint publications

Andrea Superti-Furga