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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 (2024). Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology, 262(6), pp. 1883-1897. Springer 10.1007/s00417-023-06360-2
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001
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 (2023). The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus, 2(3), pgad043. Oxford University Press 10.1093/pnasnexus/pgad043
Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P N; Rivolta, Carlo; Goldblum, David (2022). c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Cornea, 41(1), pp. 89-94. Wolters Kluwer Health 10.1097/ICO.0000000000002843
