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Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. PubMed PMID: 25271085; PubMed Central PMCID: PMC4463497.
AÑO: 2015; IF: 4.58
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25271085
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Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Spanish. PubMed PMID: 25194980.
AÑO: 2015; IF: 1.267
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Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, Lama G, Brugnara M, Lücke T, Olney AH, Hunley TE, Polat AI, Yis U, Bogdanovic R, Mitrovic K, Berry S, Najera L, Najafian B, Gentile M, Nur Semerci C, Tsimaratos M, Lewis DB, Boerkoel CF. Lack of IL7R? expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). Clin Immunol. 2015 Dec;161(2):355-65. doi: 10.1016/j.clim.2015.10.005. PubMed PMID: 26499378.
AÑO: 2015; IF: 4.034
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Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies. Am J Med Genet A. 2015 Apr;167A(4):786-90. doi: 10.1002/ajmg.a.36949. PubMed PMID: 25655674.
AÑO: 2015; IF: 2.082
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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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