Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

por Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen
Publicado 2021

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

por Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Publicado 2021