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| Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples V Cirigliano, G Voglino, MP Canadas, A Marongiu, M Ejarque, E Ordonez, ... Molecular Human Reproduction 10 (11), 839-846, 2004 | 180 | 2004 |
| Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies V Cirigliano, M Ejarque, MP Canadas, E Lloveras, A Plaja, ... Molecular human reproduction 7 (10), 1001-1006, 2001 | 149 | 2001 |
| Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis L Armengol, J Nevado, C Serra-Juhé, A Plaja, C Mediano, ... Human genetics 131, 513-523, 2012 | 114 | 2012 |
| Rapid prenatal diagnosis by QF‐PCR: evaluation of 30,000 consecutive clinical samples and future applications V Cirigliano, G Voglino, A Marongiu, P Canadas, E Ordonez, E Lloveras, ... Annals of the New York Academy of Sciences 1075 (1), 288-298, 2006 | 83 | 2006 |
| Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer‐prone disease A Plaja, T Vendrell, D Smeets, E Sarret, T Gili, V Catala, C Mediano, ... American journal of medical genetics 98 (3), 216-223, 2001 | 69 | 2001 |
| Assessment of QF-PCR as the first approach in prenatal diagnosis C Badenas, L Rodríguez-Revenga, C Morales, C Mediano, A Plaja, ... The Journal of Molecular Diagnostics 12 (6), 828-834, 2010 | 66 | 2010 |
| High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability V Davalos, H Dopeso, S Velho, AM Ferreira, L Cirnes, N Diaz-Chico, ... Oncogene 26 (2), 308-311, 2007 | 53 | 2007 |
| Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis H Alazzouzi, E Domingo, S Gonzalez, I Blanco, M Armengol, E Espín, ... Human Molecular Genetics 14 (2), 235-239, 2005 | 51 | 2005 |
| Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome S Hanks, K Coleman, B Summersgill, B Messahel, D Williamson, ... Cancer letters 239 (2), 234-238, 2006 | 50 | 2006 |
| Comparative genomic hybridisation shows a partial de novo deletion 16p11. 2 in a neonate with multiple congenital malformations C Hernando, A Plaja, MA Rigola, MM Pérez, T Vendrell, J Egocue, ... Journal of Medical Genetics 39 (5), e24-e24, 2002 | 42 | 2002 |
| TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6 C Franco-Jarava, H Wang, A Martin-Nalda, M García-Prat, D Bodet, ... Clinical Immunology 191, 44-51, 2018 | 39 | 2018 |
| LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy P Soler-Palacín, M Garcia-Prat, A Martín-Nalda, C Franco-Jarava, ... Frontiers in immunology 9, 2397, 2018 | 38 | 2018 |
| PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13. 3 microdeletion/microduplication syndrome J Nevado, JA Rosenfeld, R Mena, M Palomares-Bralo, E Vallespín, ... European Journal of Human Genetics 23 (12), 1615-1626, 2015 | 36 | 2015 |
| Tumour selection advantage of non-dominant negative P53 mutations in homozygotic MDM2-SNP309 colorectal cancer cells H Alazzouzi, G Suriano, A Guerra, A Plaja, E Espín, M Armengol, ... Journal of medical genetics 44 (1), 75-80, 2007 | 35 | 2007 |
| Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR V Cirigliano, P Cañadas, A Plaja, E Ordoñez, C Mediano, A Sánchez, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003 | 31 | 2003 |
| Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis MA Rigola, A Plaja, C Mediano, R Miro, J Egozcue, C Fuster American journal of medical genetics 104 (1), 37-41, 2001 | 30 | 2001 |
| Terminal deletion of Xp in a dysmorphic anencephalic fetus A Plaja, T Vendrell, E Sarret, N Toran, C Mediano Prenatal diagnosis 14 (5), 410-412, 1994 | 23 | 1994 |
| Two cases of tetrasomy 9p syndrome with tissue limited mosaicism E Lloveras, C Perez, F Sole, L Zamora, A Lladonosa, B Espinet, ... American Journal of Medical Genetics Part A 124 (4), 402-406, 2004 | 21 | 2004 |
| Molecular characterization of Spanish patients with MECP2 duplication syndrome A Pascual‐Alonso, L Blasco, S Vidal, E Gean, P Rubio, M O'Callaghan, ... Clinical Genetics 97 (4), 610-620, 2020 | 20 | 2020 |
