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Orphanet Journal of Rare Diseases|June 25, 2026
Implementation of a medical genomics program for rare diseases in UruguayCamila Simoes, María Fernanda Domínguez, Soledad Rodriguez, et al.Retrovirology|July 4, 2020
Increased expression of CDKN1A/p21 in HIV-1 controllers is correlated with upregulation of ZC3H12A/MCPIP1Suwellen S D de Azevedo, Marcelo Ribeiro-Alves, Fernanda H Côrtes, et al.Multiple Sclerosis and Related Disorders|June 20, 2020
Whole transcriptome analysis of multiple Sclerosis patients reveals active inflammatory profile in relapsing patients and downregulation of neurological repair pathways in secondary progressive casesLuiz H Nali, Guilherme S Olival, Francielle T G Sousa, et al.Mitochondrion|September 18, 2021
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial diseaseMartina Alonso, Cristina Zabala, Santiago Mansilla, et al.Stem Cells and Development|July 29, 2014
Polysome profiling shows the identity of human adipose-derived stromal/stem cells in detail and clearly distinguishes them from dermal fibroblastsJaiesa Zych, Lucia Spangenberg, Marco A Stimamiglio, et al.Stem Cell Research|July 13, 2013
Polysome profiling shows extensive posttranscriptional regulation during human adipocyte stem cell differentiation into adipocytesLucia Spangenberg, Patricia Shigunov, Ana Paula R Abud, et al.Human Genomics|May 11, 2021
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery diseaseVíctor Raggio, Nicolas Dell'Oca, Camila Simoes, et al.Human Genomics|February 28, 2023
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathyVíctor Raggio, Martín Graña, Erik Winiarski, et al.Current Biology : CB|April 23, 2026
The shared genomic history of Middle- to Late-Holocene populations from the Southern Cone of South AmericaKim-Louise Krettek, María Barbara Postillone, Lucía Spangenberg, et al.Proceedings of the National Academy of Sciences of the United States of America|March 11, 2020
CD300f immunoreceptor is associated with major depressive disorder and decreased microglial metabolic fitnessNatalia Lago, Fernanda N Kaufmann, María Luciana Negro-Demontel, et al.Pageof 10