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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease by María Rodríguez-Hidalgo, María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Marta Del Pozo-Valero, Jordi Corominas, Jordi Corominas, Christian Gilissen, Christian Gilissen, Cristina Irigoyen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Carmen Ayuso, Javier Ruiz-Ederra, Javier Ruiz-Ederra, Susanne Roosing

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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients by Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

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