• Lucía Spangenberg, María Inés Fariello, Darío Arce, Gabriel Illanes, Gonzalo Greif, Jong-Yeon Shin, Seong-Keun Yoo, Jeong-Sun Seo, Carlos Robello, Changhoon Kim, John Novembre, Monica Sans, Hugo Naya (2021). Indigenous ancestry and admixture in the Uruguayan population. Frontiers in Genetics (accepted)

 

• Spangenberg L, Guecaimburú R, Tapié A, Vivas S, Rodríguez S, Graña M, Naya H, Raggio V. Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause. Mol Genet Genomic Med. 2021 May;9(5):e1622. doi: 10.1002/mgg3.1622. Epub 2021 Mar 22. PMID: 33750045; PMCID: PMC8172205.

 

• Raggio V, Dell’Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. PMID: 33971976; PMCID: PMC8108437.

 

• Spangenberg L, Graña M, Mansilla S, Martínez J, Tapié A, Greif G, Montano N, Vaglio A, Gueçaimburú R, Robello C, Castro L, Quijano C, Raggio V, Naya H. Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease. Mitochondrion. 2019 May;46:337-344. doi: 10.1016/j.mito.2018.09.004. Epub 2018 Sep 15. PMID: 30227252.

 

• Spangenberg L, Graña M, Greif G, Suarez-Rivero JM, Krysztal K, Tapié A, Boidi M, Fraga V, Lemes A, Gueçaimburú R, Cerisola A, Sánchez-Alcázar JA, Robello C, Raggio V, Naya H. 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. Mitochondrion. 2016 May;28:54-9. doi: 10.1016/j.mito.2016.03.006. Epub 2016 Mar 24. PMID: 27017994.