Maria Juliana Ballesta Martínez

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

37480025

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: 3.5

37372360

Amate-Garcia G, Ballesta-Martinez MJ, Serrano-Lorenzo P, Garrido-Moraga R, Gonzalez-Quintana A, Blazquez A, Rubio JC, Garcia-Consuegra I, Arenas J, Ugalde C, Moran M, Guillen-Navarro E, Martin MA. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. PubMed PMID: 36675256; PubMed Central PMCID: PMC9865986.

AÑO: 2023; IF: 5.6

36675256

Nevado J, Garcia-Minaur S, Palomares-Bralo M, Vallespin E, Guillen-Navarro E, Rosell J, Bel-Fenellos C, Mori MA, Mila M, Del Campo M, Barruz P, Santos-Simarro F, Obregon G, Orellana C, Pachajoa H, Tenorio JA, Galan E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Perez-Jurado L, Barcia A, Martin MS, Mansilla E, Vallcorba I, Garcia-Murillo P, Cammarata-Scalisi F, Goncalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. PubMed PMID: 35495150; PubMed Central PMCID: PMC9044489.

AÑO: 2022; IF: 3.7

35495150

Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta-Martinez MJ, Guillen-Navarro E. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases. An Pediatr (Engl Ed). 2022 Mar;96(3):253-255. doi: 10.1016/j.anpede.2021.03.005. Epub 2022 Mar 16. No abstract available. PubMed PMID: 35305950.

AÑO: 2022

35305950