|
Ballesta-Martinez MJ, Perez-Fernandez V, Lopez-Gonzalez V, Sanchez-Soler MJ, Serrano-Anton AT, Rodriguez-Pena LI, Barreda-Sanchez M, Armengol-Dulcet L, Guillen-Navarro E. Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. PubMed PMID: 37480025; PubMed Central PMCID: PMC10362575.
AÑO: 2023; IF: 3.4
|
37480025
|
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillen-Navarro E, Hogler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, Sigaudy S, Popkov D, Sabir I, Noval S, Sessa M, Irving M. Real-world evidence in achondroplasia: considerations for a standardized data set. Orphanet J Rare Dis. 2023 Jun 26;18(1):166. doi: 10.1186/s13023-023-02755-w. PubMed PMID: 37365619; PubMed Central PMCID: PMC10294372.
AÑO: 2023; IF: 3.4
|
|
Del Pozo-Valero M, Corton M, Lopez-Rodriguez R, Mahillo-Fernandez I, Ruiz-Hornillos J, Minguez P, Villaverde C, Perez-Tomas ME, Barreda-Sanchez M, Mancebo E; STOP_Coronavirus Study Group; Paz-Artal E, Guillen-Navarro E, Almoguera B, Ayuso C. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years. Geroscience. 2023 Feb;45(1):543-553. doi: 10.1007/s11357-022-00666-5. Epub 2022 Oct 3. PubMed PMID: 36184726; PubMed Central PMCID: PMC9527133.
AÑO: 2023; IF: 5.3
|
|
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillen-Navarro E, Munoz-Hernandez H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. PubMed PMID: 37372360; PubMed Central PMCID: PMC10297832.
AÑO: 2023; IF: 2.8
|
|
Kuter DJ, Bonkovsky HL, Monroy S, Ross G, Guillen-Navarro E, Cappellini MD, Minder AE, Hother-Nielsen O, Ventura P, Jia G, Sweetser MT, Thapar M; ENVISION Investigators. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. J Hepatol. 2023 Nov;79(5):1150-1158. doi: 10.1016/j.jhep.2023.06.013. Epub 2023 Jul 20. PubMed PMID: 37479139.
AÑO: 2023; IF: 26.8
|