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Palencia-Campos A, Martinez-Fernandez ML, Altunoglu U, Soto-Bielicka P, Torres A, Marin P, Aller E, Senturk L, Berkoz O, Yildiran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchis-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillen-Navarro E, Lopez-Gonzalez V, Ballesta-Martinez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sanchez E, Ruiz-Perez VL. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. PubMed PMID: 31549748.
AÑO: 2020; IF: 4.878
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31549748
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta Martinez MJ, Guillen-Navarro E. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. No abstract available. Spanish. PubMed PMID: 31147255.
AÑO: 2020; IF: 1.5
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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
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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
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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: 4.9
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