The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

por Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo
Publicado 2023

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

por Quinodoz, Mathieu, Peter, Virginie G., Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Sousa, Ana Berta, Coutinho Santos, Luisa, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2021

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

por Moye, Abigail R., Bedoni, Nicola, Cunningham, Jessica G., Sanzhaeva, Urikhan, Tucker, Eric S., Mathers, Peter, Peter, Virginie G., Quinodoz, Mathieu, Paris, Liliana P., Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G., Winkelmann, Abbie C., Foster, James A., Pugacheva, Elena N., Rivolta, Carlo, Ramamurthy, Visvanathan
Publicado 2019

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

por Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Publicado 2021