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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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24607569
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Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. PubMed PMID: 25724810.
AÑO: 2015; IF: 5.138
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Barroso E, Berges-Soria J, Benito-Sanz S, Rivera-Pedroza CI, Ballesta-Martínez MJ, López-González V, Guillen-Navarro E, Heath KE. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements. Am J Med Genet A. 2015 Apr;167A(4):902-6. doi: 10.1002/ajmg.a.36811. PubMed PMID: 25692887.
AÑO: 2015; IF: 2.082
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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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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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