|
Tenorio J, Alarcon P, Arias P, Dapia I, Garcia-Minaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solis M, Santos-Simarro F, Alvarez S, Teixido-Tura G, Fernandez Jaen A, Gordo G, Bardon Rivera MB, Nevado J, Hernandez A, Cigudosa JC, Ruiz-Perez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. PubMed PMID: 31685998; PubMed Central PMCID: PMC7080728.
AÑO: 2020; IF: 4.246
|
|
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martinez-Monseny AF, Castells AA, Xiol C, Catala V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillen E, Ibanez S, Sanchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martinez F, Orellana C, Rosello M, Mesas MA, Obon M, Plaja A, Fernandez-Ramos JA, Tizzano E, Marin R, Pena-Segura JL, Alcantara S, Armstrong J. Molecular characterization of Spanish patients with MECP2 duplication syndrome. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. PubMed PMID: 32043567.
AÑO: 2020; IF: 4.438
|
|
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. PubMed PMID: 31427717; PubMed Central PMCID: PMC6700087.
AÑO: 2019; IF: 3.998
|
|
Badia X., Chugani D., Abad M.R., Arias P., Guillén-Navarro E., Jarque I., Posada M., Vitoria I., Poveda J.L. Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain. Expert Opinion on Orphan Drugs. 2019. 7:363-372. 10.1080/21678707.2019.1652163
AÑO: 2019; IF: 0.805
|
|
Barreda-Sanchez M, Buendia-Martinez J, Glover-Lopez G, Carazo-Diaz C, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Rodriguez-Pena L, Serrano-Anton AT, Gil-Ferrer R, Martinez-Romero MDC, Carbonell-Meseguer P, Guillen-Navarro E. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. PubMed PMID: 30808393; PubMed Central PMCID: PMC6390611.
AÑO: 2019; IF: 3.523
|