Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

by Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina
Published 2013-05-01

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

by Ana Bustamante-Aragones, Sara Perlado-Marina, Maria José Trujillo-Tiebas, Jesús Gallego-Merlo, Isabel Lorda-Sanchez, Luz Rodríguez-Ramirez, Concepcion Linares, Corazón Hernandez, Marta Rodriguez de Alba
Published 2014-08-01

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

by Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Published 2017-01-01

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

by Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso
Published 2021-02-01

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

by Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Published 2021-03-01