| Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM N Okamoto, R Del Maestro, R Valero, E Monros, P Poo, Y Kanemura, ... Journal of human genetics 49 (6), 334-337, 2004 | 82 | 2004 |
| Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25 R Valero, M Bayés, M Francisca Sanchez-Font, O González-Angulo, ... Genome biology 2, 1-10, 2001 | 65 | 2001 |
| USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11. 2 R Valero, G Marfany, O González-Angulo, G González-González, ... Genomics 62 (3), 395-405, 1999 | 62 | 1999 |
| Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR R Valero, G Marfany, R Gil-Benso, M de los Angeles Ibáñez, ... Journal of medical genetics 36 (9), 694-699, 1999 | 38 | 1999 |
| M., Gonzalez-Angulo, O., Gonzalez-Duarte, R., and Marfany, G.(2001). Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25 R Valero, M Bayes, SF Francisca Genome Biol 2 (10), 0 | 21 | |
| The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients F Della Ragione, A Tiunova, M Vacca, M Strazzullo, E González, ... Gene 373, 83-89, 2006 | 19 | 2006 |
| Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1 R Valero, M de Castro-Miró, S Jiménez-Ochoa, JJ Rodríguez-Ezcurra, ... Genes 10 (10), 732, 2019 | 17 | 2019 |
| The genetic landscape of inherited retinal diseases in a Mexican cohort: genes, mutations and phenotypes C Villanueva-Mendoza, M Tuson, D Apam-Garduño, M de Castro-Miró, ... Genes 12 (11), 1824, 2021 | 15 | 2021 |
| Identification of a Drosophila Presenilin Homologue: Evidence of Alternatively Spliced Forms G Marfany, J Del-Favero, R Valero, CD Jonghe, S Woodrow, L Hendriks, ... Journal of neurogenetics 12 (1), 41-54, 1998 | 14 | 1998 |
| Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants V Toulis, V Cortés-González, M de Castro-Miró, J Ferraz Sallum, ... Genes 11 (4), 378, 2020 | 11 | 2020 |
| Molecular approaches to identify genes in the 21q11. 2 region R Valero, M Bayes, E Monros, F Sanchez, G Marfany, R GonzalezDuarte CYTOGENETICS AND CELL GENETICS 77, 14-14, 1997 | | 1997 |
| Fine molecular characterization of 21-chromosome aneuploidies by PCR with fluorescent primers R Valero, R GonzalezDuarte, G Marfany CYTOGENETICS AND CELL GENETICS 77, 30-31, 1997 | | 1997 |
