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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: cadinanos j. 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.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadiñanos J, Fraile JM, Ordóñez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Puente XS, et al. Among authors: cadinanos j. Am J Hum Genet. 2011 May 13;88(5):650-6. doi: 10.1016/j.ajhg.2011.04.010. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549337 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: cadinanos j. 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: cadinanos j. 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.
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit.
Costales M, Diñeiro M, Cifuentes GA, Capín R, Otero A, Viejo-Díaz M, Plasencia A, Núñez F, Gómez JR, Llorente JL, Cadiñanos J, Cabanillas R. Costales M, et al. Among authors: cadinanos j. Acta Otorrinolaringol Esp (Engl Ed). 2020 May-Jun;71(3):166-174. doi: 10.1016/j.otorri.2019.05.005. Epub 2019 Nov 6. Acta Otorrinolaringol Esp (Engl Ed). 2020. PMID: 31706454 English, Spanish.
74 results