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Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, Bueno AM, Martinez-Glez V, López-González V, Burnyte B, Utkus A, Lapunzina P, Ruiz-Perez VL. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014 May;164A(5):1136-42. doi: 10.1002/ajmg.a.36409. PubMed PMID: 24478195.
AÑO: 2014; IF: 2.197
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24478195
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López-Expósito I, Ballesta-Martinez MJ, Bafalliu JA, Vera-Carbonell A, Domingo-Jiménez R, López-González V, Fernández A, Guillén-Navarro E. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement. Genomics. 2014 Apr;103(4):288-91. doi: 10.1016/j.ygeno.2014.02.008. PubMed PMID: 24607569.
AÑO: 2014; IF: 2.284
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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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Vera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I. Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. PubMed PMID: 23894102.
AÑO: 2013; IF: 2.048
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Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146. PubMed PMID: 24053514; PubMed Central PMCID: PMC4015352.
AÑO: 2013; IF: 3.958
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