Alberto Plaja

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid et al. · Nature Genetics · 2004 · 604 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +7

Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples

Vincenzo Cirigliano, Gianfranco Voglino, M. Paz Cañadas et al. · Molecular Human Reproduction · 2004 · 102 citations · Full text

Genetic Testing, Fertility, Cytogenetics +22

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé et al. · Human Genetics · 2011 · 100 citations · Full text

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis

Célia Bádenas, Laia Rodríguez‐Revenga, Carmen Morales et al. · Journal of Molecular Diagnostics · 2010 · 60 citations · Full text

Early Diagnosis, Prenatal Genetic Testing, Pediatrics +8

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis

Hafid Alazzouzi, Enric Domingo, Sara González et al. · Human Molecular Genetics · 2004 · 49 citations · Full text

Genome Instability, Mmr Mutation Carriers, Cancer Pathology +15