Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns

Por Riera, Marina, Wert, Ana, Nieto, Isabel, Pomares, Esther
Publicado no Mol Genet Genomic Med (2017)

CERKL Knockdown Causes Retinal Degeneration in Zebrafish

Por Riera, Marina, Burguera, Demian, Garcia-Fernàndez, Jordi, Gonzàlez-Duarte, Roser
Publicado em 2013

CERKL, a Retinal Disease Gene, Encodes an mRNA-Binding Protein That Localizes in Compact and Untranslated mRNPs Associated with Microtubules

Por Fathinajafabadi, Alihamze, Pérez-Jiménez, Eva, Riera, Marina, Knecht, Erwin, Gonzàlez-Duarte, Roser
Publicado em 2014

Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies

Por Riera, Marina, Navarro, Rafael, Ruiz-Nogales, Sheila, Méndez, Pilar, Burés-Jelstrup, Anniken, Corcóstegui, Borja, Pomares, Esther
Publicado no Sci Rep (2017)

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Por Pomares, Esther, Riera, Marina, Permanyer, Jon, Méndez, Pilar, Castro-Navarro, Joaquín, Andrés-Gutiérrez, Ángeles, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado em 2010

Comparative study of human embryonic stem cells (hESC) and human induced pluripotent stem cells (hiPSC) as a treatment for retinal dystrophies

Por Riera, Marina, Fontrodona, Laura, Albert, Silvia, Ramirez, Diana Mora, Seriola, Anna, Salas, Anna, Muñoz, Yolanda, Ramos, David, Villegas-Perez, Maria Paz, Zapata, Miguel Angel, Raya, Angel, Ruberte, Jesus, Veiga, Anna, Garcia-Arumi, Jose
Publicado no Mol Ther Methods Clin Dev (2016)