Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin

von Perlado, Sara, Bustamante-Aragonés, Ana, Donas, Marta, Lorda-Sánchez, Isabel, Plaza, Javier, Rodríguez de Alba, Marta
Veröffentlicht in PLoS One (2016)

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

von Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel
Veröffentlicht in Clin Case Rep (2014)

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

von Perlado-Marina, Sara, Bustamante-Aragones, Ana, Horcajada, Laura, Trujillo-Tiebas, Maria Jose, Lorda-Sanchez, Isabel, Ruiz Ramos, Marta, Plaza, Javier, Rodriguez de Alba, Marta
Veröffentlicht in Diagnostics (Basel) (2013)

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

von Bustamante-Aragones †, Ana, Perlado-Marina †, Sara, Trujillo-Tiebas, Maria José, Gallego-Merlo, Jesús, Lorda-Sanchez, Isabel, Rodríguez-Ramirez, Luz, Linares, Concepcion, Hernandez, Corazón, Rodriguez de Alba, Marta
Veröffentlicht in J Clin Med (2014)

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

von Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen
Veröffentlicht 2008

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

von 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
Veröffentlicht in NPJ Genom Med (2021)