| The Arabidopsis heavy metal P‐type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots N Andrés‐Colás, V Sancenón, S Rodríguez‐Navarro, S Mayo, DJ Thiele, ... The Plant Journal 45 (2), 225-236, 2006 | 410 | 2006 |
| High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing F Martínez, A Caro-Llopis, M Roselló, S Oltra, S Mayo, S Monfort, ... Journal of medical genetics 54 (2), 87-92, 2017 | 133 | 2017 |
| Clinical laboratory automated urinalysis: comparison among automated microscopy, flow cytometry, two test strips analyzers, and manual microscopic examination of the urine … S Mayo, D Acevedo, C Quiñones‐Torrelo, I Canós, M Sancho Journal of clinical laboratory analysis 22 (4), 262-270, 2008 | 108 | 2008 |
| Identification of intellectual disability genes in female patients with a skewed X‐inactivation pattern N Fieremans, H Van Esch, M Holvoet, G Van Goethem, K Devriendt, ... Human mutation 37 (8), 804-811, 2016 | 104 | 2016 |
| Copy-number gains of HUWE1 due to replication-and recombination-based rearrangements G Froyen, S Belet, F Martinez, CB Santos-Rebouças, M Declercq, ... The American Journal of Human Genetics 91 (2), 252-264, 2012 | 100 | 2012 |
| Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes F Martinez, P Marín-Reina, A Sanchis-Calvo, A Perez-Aytés, S Oltra, ... Pediatric research 78 (5), 533-539, 2015 | 54 | 2015 |
| Modulation of copper deficiency responses by diurnal and circadian rhythms in Arabidopsis thaliana A Perea-García, A Andrés-Bordería, S Mayo de Andrés, A Sanz, AM Davis, ... Journal of experimental botany 67 (1), 391-403, 2016 | 50 | 2016 |
| Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus G Perez-Nanclares, V Romanelli, S Mayo, I Garin, C Zazo, ... The Journal of Clinical Endocrinology & Metabolism 97 (6), E1060-E1067, 2012 | 50 | 2012 |
| Recent evidence in epigenomics and proteomics biomarkers for early and minimally invasive diagnosis of Alzheimer’s and Parkinson’s diseases S Mayo, J Benito-León, C Peña-Bautista, M Baquero, C Cháfer-Pericás Current neuropharmacology 19 (8), 1273, 2021 | 49 | 2021 |
| De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? A Caro-Llopis, M Rosello, C Orellana, S Oltra, S Monfort, S Mayo, ... Pediatric Research 80 (6), 809-815, 2016 | 40 | 2016 |
| Phenotype profiling of patients with intellectual disability and copy number variations M Roselló, F Martínez, S Monfort, S Mayo, S Oltra, C Orellana european journal of paediatric neurology 18 (5), 558-566, 2014 | 40 | 2014 |
| Comparison of global responses to mild deficiency and excess copper levels in Arabidopsis seedlings N Andrés-Colás, A Perea-García, SM de Andrés, A Garcia-Molina, ... Metallomics 5 (9), 1234-1246, 2013 | 36 | 2013 |
| De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation S Mayo, S Monfort, M Rosello, C Orellana, S Oltra, J Armstrong, V Catala, ... Cytogenetic and genome research 135 (2), 93-101, 2011 | 32 | 2011 |
| Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies F Martínez, S Monfort, M Roselló, S Oltra, D Blesa, R Quiroga, S Mayo, ... BMC Medical Genomics 3, 1-6, 2010 | 28 | 2010 |
| Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature S Mayo, I Gómez-Manjón, F Fernández-Martínez, A Camacho, F Martínez, ... International Journal of Molecular Sciences 22 (11), 5609, 2021 | 19 | 2021 |
| Chimeric genes in deletions and duplications associated to intellectual disability S Mayo, S Monfort, M Roselló, C Orellana, S Oltra, A Caro-Llopis, ... International Journal of Genomics 2017 (DOI: 10.1155/2017/4798474), 2017 | 17 | 2017 |
| A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome E Preiksaitiene, A Caro, E Benušienė, S Oltra, C Orellana, A Morkūnienė, ... American Journal of Medical Genetics Part A 167 (6), 1342-1348, 2015 | 17 | 2015 |
| Duplication at Xq13. 3–q21. 1 with syndromic intellectual disability, a probable role for the ATRX gene F Martínez, M Roselló, S Mayo, S Monfort, S Oltra, C Orellana American Journal of Medical Genetics Part A 164 (4), 918-923, 2014 | 17 | 2014 |
| Mutation screening of AURKB and SYCP3 in patients with reproductive problems A Lopez-Carrasco, S Oltra, S Monfort, S Mayo, M Rosello, F Martinez, ... Molecular human reproduction 19 (2), 102-108, 2013 | 17 | 2013 |
| Intragenic CNVs for Epigenetic Regulatory Genes in Intellectual Disability: Survey Identifies Pathogenic and Benign Single Exon Changes F Zahir, T Tucker, S Mayo, C Brown, J Taylor, E Lim, M Marra, F Hamdan, ... American Journal of Medical Genetics: Part A, 2016 | 16 | 2016 |