Author
Centre Hospitalier Universitaire Vaudois
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Norine Voisin, Rhonda E. Schnur, Sofia Douzgou…·Alexandre Reymond
The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.
Julien Delafontaine, Sylvain Pradervand
Bam-server provides a secure RESTful API to query BAM files with OAuth2 authorization, enabling secure access without exposing sensitive data.
Julien Delafontaine, Alexandre Masselot, Robin Liechti…·Sylvain Pradervand
Varapp filters variants from exome data quickly and offers scenarios for Mendelian diseases, with a reactive web interface and open-source code.