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Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium., Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. PubMed PMID: 25196541.
AÑO: 2014; IF: 5.34
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25196541
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López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E. [Schinzel-Giedion syndrome: a new mutation in SETBP1]. An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Spanish. PubMed PMID: 25082129.
AÑO: 2015; IF: 0.773
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San Román-Monserrat I, Moreno-Flores V, López-Cuenca D, Rodríguez-González-Herrero E, Guillén-Navarro E, Rodríguez-González-Herrero B, Alegría-Fernández M, Poza-Cisneros G, Piñero-Fernández JA, Sornichero-Martínez J, Gimeno-Blanes JR. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. Med Clin (Barc). 2014 Jun 6;142(11):497-504. doi: 10.1016/j.medcli.2014.01.032. PubMed PMID: 24679964.
AÑO: 2014; IF: 1.417
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Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. PubMed PMID: 23810759.
AÑO: 2013; IF: 3.955
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Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28. PubMed PMID: 26833329; PubMed Central PMCID: PMC4746363.
AÑO: 2016; IF: 9.025
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