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Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Salinas V, Vega P, Piccirilli MV, Chicco C, Ciraolo C, Christiansen S, Consalvo D, Perez-Maturo J, Medina N, González-Morón D, Novaro V, Perrone C, García MDC, Agosta G, Silva W, Kauffman M. Salinas V, et al. Eur J Med Genet. 2019 Nov;62(11):103571. doi: 10.1016/j.ejmg.2018.11.005. Epub 2018 Nov 8. Eur J Med Genet. 2019. PMID: 30414531
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Perez Maturo J, Vega P, Medina N, Salinas V, Pauni M, Agosta G, Muntadas Rausei J, Kauffman M. Perez Maturo J, et al. Among authors: salinas v. Am J Med Genet A. 2019 Jun;179(6):1074-1076. doi: 10.1002/ajmg.a.61135. Epub 2019 Mar 26. Am J Med Genet A. 2019. PMID: 30912254 No abstract available.
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Perez Maturo J, et al. Among authors: salinas v. J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3. J Hum Genet. 2020. PMID: 32488064
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Salinas V, Vega P, Marsili L, Pérez-Maturo J, Martínez N, Zavala L, González-Morón D, Medina N, Rodriguez-Quiroga SA, Amartino H, Maxit C, Sturchio A, Grimberg B, Duque K, Comas B, Silva W, Consalvo D, Sfaello I, Espay AJ, Kauffman MA. Salinas V, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):876-884. doi: 10.1002/ajmg.c.31848. Epub 2020 Oct 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33084218
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V, Martínez N, Maturo JP, Rodriguez-Quiroga SA, Zavala L, Medina N, Amartino H, Sfaello I, Agosta G, Serafín EM, Morón DG, Kauffman MA, Vega P. Salinas V, et al. Eur J Med Genet. 2021 Dec;64(12):104363. doi: 10.1016/j.ejmg.2021.104363. Epub 2021 Oct 18. Eur J Med Genet. 2021. PMID: 34673242
87 results