Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

od Spangenberg, Lucía, Guecaimburú, Rosario, Tapié, Alejandra, Vivas, Susana, Rodríguez, Soledad, Graña, Martín, Naya, Hugo, Raggio, Víctor
Wydane w Mol Genet Genomic Med (2021)

CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin

od Meyer, Emily Jane, Spangenberg, Lucía, Ramírez, Maria José, De Sousa, Sunita Maria Christina, Raggio, Victor, Torpy, David James
Wydane w J Endocr Soc (2021)

A novel mutation in the OAR domain of the ARX gene

od Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía
Wydane w Clin Case Rep (2017)

Whole Exome Sequencing in Dominant Cataract Identifies a New Causative Factor, CRYBA2, and a Variety of Novel Alleles in Known Genes

od Reis, Linda M., Tyler, Rebecca C., Muheisen, Sanaa, Raggio, Victor, Salviati, Leonardo, Han, Dennis P., Costakos, Deborah, Yonath, Hagith, Hall, Sarah, Power, Patricia, Semina, Elena V.
Wydane 2013

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

od Raggio, Víctor, Dell’Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia
Wydane w Hum Genomics (2021)

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry

od Cornejo-Olivas, Mario, Torres, Luis, Velit-Salazar, Mario R., Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Perandones, Claudia, Dieguez, Elena, Raggio, Victor, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R. M., Shumacher-Schuh, Artur, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Chang-Castello, Jorge, Andreé-Munoz, Brennie, Waldherr, Sarah, Yearout, Dora, Zabetian, Cyrus P., Mata, Ignacio F.
Wydane w NPJ Parkinsons Dis (2017)

Erratum: Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry

od Cornejo-Olivas, Mario, Torres, Luis, Velit-Salazar, Mario R., Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Perandones, Claudia, Dieguez, Elena, Raggio, Victor, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R. M., Shumacher-Schuh, Artur, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Chang-Castello, Jorge, Andreé-Munoz, Brennie, Waldherr, Sarah, Yearout, Dora, Zabetian, Cyrus P., Mata, Ignacio F.
Wydane w NPJ Parkinsons Dis (2018)

Lrrk2 p.Q1111H substitution and Parkinson’s disease in Latin America

od Mata, Ignacio F., Wilhoite, Greggory J., Yearout, Dora, Bacon, Justin A., Cornejo, Mario, Mazzetti, Pilar, Marca, Victoria, Ortega, Olimpio, Acosta, Oscar, Cosentino, Carlos, Torres, Luis, Medina, Angel C., Perez-Pastene, Carolina, Díaz-Grez, Fernando, Vilariño-Güell, Carles, Venegas, Pablo, Miranda, Marcelo, Trujillo-Godoy, Osvaldo, Layson, Luis, Avello, Rodrigo, Dieguez, Elena, Raggio, Victor, Micheli, Federico, Perandones, Claudia, Alvarez, Victoria, Segura-Aguilar, Juan, Farrer, Matthew J., Zabetian, Cyrus P., Ross, Owen A.
Wydane 2011

Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson’s Disease Patients

od Sarihan, Elif Irem, Pérez-Palma, Eduardo, Niestroj, Lisa-Marie, Loesch, Douglas, Inca-Martinez, Miguel, Horimoto, Andrea R.V.R., Cornejo-Olivas, Mario, Torres, Luis, Mazzetti, Pilar, Cosentino, Carlos, Sarapura-Castro, Elison, Rivera-Valdivia, Andrea, Dieguez, Elena, Raggio, Victor, Lescano, Andres, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R., Schumacher-Schuh, Artur F., Santos-Lobato, Bruno L., Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Moreno, Sonia, Chana-Cuevas, Pedro, Fernandez, William, Arboleda, Gonzalo, Arboleda, Humberto, Arboleda-Bustos, Carlos E., Yearout, Dora, Zabetian, Cyrus P., Thornton, Timothy A., O’Connor, Timothy D., Lal, Dennis, Mata, Ignacio F.
Wydane w Mov Disord (2020)