| Data | Título | Autor(es) | Tipo | Acesso |
| 3-Out-2024 | Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa | Iglesias-Romero, Ana Belén; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R; Moulin, Alexandre; Sousa, Ana Berta; Coutinho-Santos, Luisa; Santos, Cristina; Rivolta, Carlo | article |  |
| Abr-2025 | Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy | Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberán-Martínez, Pilar; Schlaeger, Regina; Van den Broeck, Filip; Ávila Fernández, Almudena; Fernández-Caballero, Lidia; Perea-Romero, Irene; García-García, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frédérique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Gränse, Lotta; Banin, Eyal; Sousa, Ana Berta; Coutinho Santos, Luisa; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andréasson, Sten; Scholl, Hendrik P.N.; Ayuso, Carmen; Millán, José M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai V.; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo | article | |
| Jun-2024 | Genetic profile of syndromic retinitis pigmentosa in Portugal | Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luísa; Saraiva, Jorge; Soares, Célia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luísa Coutinho; Marques, João Pedro | article | |
| Dez-2024 | GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment | Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jérôme E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stéphanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Basel Salmon, Lina; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange Line; Costet-Fighiera, Christine; Coutinho Santos, Luisa; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sá, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean Michel; Perrault, Isabelle | article | |
| 5-Set-2024 | Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression | Malka, Samantha; Biswas, Pooja; Berry, Anne Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Azhar Baig, Hafiz Muhammad; Iqbal, Muhammad; Ansar, Muhammad; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha | article | |
| Mar-2023 | The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis | 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 | article | |
