Andrea Superti-Furga
31PUBLICATIONS
130CO-AUTHORS
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Publications (31)
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|Apr 03, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz
|Dec 02, 2024
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.Mathieu Quinodoz, Sonja Rutz, Virginie Peter
|Jul 19, 2024
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga
|Jun 27, 2024
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti
|Sep 28, 2023
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.Viola Trevisani, Eleonora Balestri, Manuela Napoli
|Aug 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert
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Frequent Collaborators
9 joint publications
Carlo Rivolta
4 joint publications
Katarina Cisarova
4 joint publications
Mathieu Quinodoz
4 joint publications
Virginie Peter
4 joint publications
Stefano Giuseppe Caraffi
3 joint publications
Sébastien Lebon
3 joint publications
Jean-Marc Good
3 joint publications
Beryl Royer-Bertrand
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Christel Tran
