Ana Bustamante‐Aragonés

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

Dan Diego‐Álvarez, Carmen Ramos-Corrales, Maria García‐Hoyos et al. · Human Reproduction · 2005 · 144 citations · Full text

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

Ana Bustamante‐Aragonés, Marta Rodríguez de Alba, Cristina González-González et al. · Haemophilia · 2008 · 75 citations

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Ana Arteche‐López, Almudena Ávila‐Fernández, Raquel Escutia Romero et al. · Scientific Reports · 2021 · 65 citations · Full text

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma

Ana Bustamante‐Aragonés, J. Gallego‐Merlo, María José Trujillo-Tiebas et al. · Journal of Cystic Fibrosis · 2008 · 59 citations · Full text

Genetic Testing, Mendelian Disorder, Prenatal Genetic Testing +14

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

Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno et al. · npj Genomic Medicine · 2021 · 55 citations · Full text