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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Among authors: pruneda pc. Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1. Acta Ophthalmol. 2020. PMID: 32483926 Free PMC article.
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R, Diñeiro M, Castillo D, Pruneda PC, Penas C, Cifuentes GA, de Vicente Á, Durán NS, Álvarez R, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. Among authors: pruneda pc. Mol Genet Genomic Med. 2017 Apr 23;5(4):336-359. doi: 10.1002/mgg3.291. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717660 Free PMC article.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Cabanillas R, et al. Among authors: pruneda pc. BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5. BMC Med Genomics. 2018. PMID: 29986705 Free PMC article.
Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene.
Diñeiro M, Cifuentes GA, Capín R, Santiago A, Otero A, Castillo D, Pruneda PC, Ordóñez GR, Cabanillas R, Cadiñanos J. Diñeiro M, et al. Among authors: pruneda pc. Eur J Hum Genet. 2020 Apr;28(4):401-402. doi: 10.1038/s41431-019-0502-6. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527855 Free PMC article. No abstract available.
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T, Prieto-Matos C, Manrique-Huarte R, Calavia D, Huarte A, Pruneda PC, Ordoñez GR, Cañada-Higueras E, Patiño-García A, Alkorta-Aranburu G, Manrique Rodríguez M. Imizcoz T, et al. Among authors: pruneda pc. Front Genet. 2023 Sep 22;14:1264899. doi: 10.3389/fgene.2023.1264899. eCollection 2023. Front Genet. 2023. PMID: 37811145 Free PMC article.
Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment.
Urdinguio RG, Lopez V, Bayón GF, Diaz de la Guardia R, Sierra MI, García-Toraño E, Perez RF, García MG, Carella A, Pruneda PC, Prieto C, Dmitrijeva M, Santamarina P, Belmonte T, Mangas C, Diaconu E, Ferrero C, Tejedor JR, Fernandez-Morera JL, Bravo C, Bueno C, Sanjuan-Pla A, Rodriguez RM, Suarez-Alvarez B, López-Larrea C, Bernal T, Colado E, Balbín M, García-Suarez O, Chiara MD, Sáenz-de-Santa-María I, Rodríguez F, Pando-Sandoval A, Rodrigo L, Santos L, Salas A, Vallejo-Díaz J, C Carrera A, Rico D, Hernández-López I, Vayá A, Ricart JM, Seto E, Sima-Teruel N, Vaquero A, Valledor L, Cañal MJ, Pisano D, Graña-Castro O, Thomas T, Voss AK, Menéndez P, Villar-Garea A, Deutzmann R, Fernandez AF, Fraga MF. Urdinguio RG, et al. Among authors: pruneda pc. Nucleic Acids Res. 2019 Jun 4;47(10):5016-5037. doi: 10.1093/nar/gkz195. Nucleic Acids Res. 2019. PMID: 30923829 Free PMC article.
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
Martínez-Pomar N, Cunill V, Segura-Guerrero M, Pol-Pol E, Escobar Oblitas D, Pons J, Ayestarán I, Pruneda PC, Losada I, Toledo-Pons N, García Gasalla M, Ferrer Balaguer JM. Martínez-Pomar N, et al. Among authors: pruneda pc. Biomedicines. 2023 Sep 16;11(9):2548. doi: 10.3390/biomedicines11092548. Biomedicines. 2023. PMID: 37760989 Free PMC article.