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| Timing of surgery following SARS‐CoV‐2 infection: an international prospective cohort study H Gacaferi, GS Collaborative, COVIDSurg Collaborative Anaesthesia 76 (6), 2021 | 532* | 2021 |
| Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat E Monrós, MD Moltó, F Martínez, J Canizares, J Blanca, JJ Vílchez, ... The American Journal of Human Genetics 61 (1), 101-110, 1997 | 206 | 1997 |
| X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome A Lauren Cason, Y Ikeguchi, C Skinner, TC Wood, KR Holden, HA Lubs, ... European journal of human genetics 11 (12), 937-944, 2003 | 194 | 2003 |
| Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies S Bort, E Nelis, V Timmerman, T Sevilla, A Cruz-Martínez, F Martínez, ... Human genetics 99, 746-754, 1997 | 151 | 1997 |
| Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B KM Eckl, S De Juanes, J Kurtenbach, M Nätebus, J Lugassy, V Oji, ... Journal of Investigative Dermatology 129 (6), 1421-1428, 2009 | 132 | 2009 |
| 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 | 125 | 2017 |
| TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ... The American Journal of Human Genetics 97 (6), 922-932, 2015 | 124 | 2015 |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 112 | 2019 |
| Global variation in postoperative mortality and complications after cancer surgery: a multicentre, prospective cohort study in 82 countries SR Knight, CA Shaw, R Pius, TM Drake, L Norman, AO Ademuyiwa, ... The Lancet 397 (10272), 387-397, 2021 | 110 | 2021 |
| SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study. C COVIDSurg, C GlobalSurg Anaesthesia 77 (1), 28-39, 2022 | 99 | 2022 |
| 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 | 99 | 2016 |
| HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients S Moortgat, S Berland, I Aukrust, I Maystadt, L Baker, V Benoit, ... European Journal of Human Genetics 26 (1), 64-74, 2018 | 93 | 2018 |
| 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 | 93 | 2012 |
| X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation I Madrigal, L Rodríguez-Revenga, L Armengol, E González, B Rodriguez, ... BMC genomics 8, 1-10, 2007 | 78 | 2007 |
| Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved … AM Lossi, JM Millan, L Villard, C Orellana, C Cardoso, F Prieto, M Fontes, ... The American Journal of Human Genetics 65 (2), 558-562, 1999 | 78 | 1999 |
| Molecular biology of neuroblastoma V Castel, E Grau, R Noguera, F Martinez Clinical and Translational Oncology 9, 478-483, 2007 | 74 | 2007 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 70 | 2019 |
| The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor JCJ Eikenboom, G Castaman, PW Kamphuisen, FR Rosendaal, ... Thrombosis and haemostasis 87 (02), 252-257, 2002 | 63 | 2002 |
| Clinical, molecular and biochemical characterization of nine Spanish families with Conradi–Hünermann–Happle syndrome: new insights into X‐linked dominant chondrodysplasia … J Cañueto, M Girós, S Ciria, G Pi‐Castán, M Artigas, J García‐Dorado, ... British Journal of Dermatology 166 (4), 830-838, 2012 | 59 | 2012 |
Sonia MayoBúsqueda activa de empleoVerified email at gva.es
