Genetics and genomic medicine in Argentina

Por Vishnopolska, Sebastián A., Turjanski, Adrián G., Herrera Piñero, Mariana, Groisman, Boris, Liascovich, Rosa, Chiesa, Ana, Marti, Marcelo A.
Publicado no Mol Genet Genomic Med (2018)

VarQ: A Tool for the Structural and Functional Analysis of Human Protein Variants

Por Radusky, Leandro, Modenutti, Carlos, Delgado, Javier, Bustamante, Juan P., Vishnopolska, Sebastian, Kiel, Christina, Serrano, Luis, Marti, Marcelo, Turjanski, Adrián
Publicado no Front Genet (2018)

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Por Calandra, Cristian R., Mocarbel, Yamile, Vishnopolska, Sebastian A., Toneguzzo, Vanessa, Oliveri, Jaen, Cazado, Enrique Carlos, Biagioli, German, Turjanksi, Adrián G., Marti, Marcelo
Publicado no Mov Disord Clin Pract (2019)

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Por González-Morón, Dolores, Vishnopolska, Sebastián, Consalvo, Damián, Medina, Nancy, Marti, Marcelo, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Claverie, Santiago, Rodríguez-Quiroga, Sergio Alejandro, Vega, Patricia, Silva, Walter, Kochen, Silvia, Kauffman, Marcelo Andrés
Publicado no PLoS One (2017)

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern

Por Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio
Publicado no J Endocr Soc (2019)

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel...

Por Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Publicado no J Endocr Soc (2019)

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

Por Pérez Millán, María I., Vishnopolska, Sebastian A., Daly, Alexandre Z., Bustamante, Juan P., Seilicovich, Adriana, Bergadá, Ignacio, Braslavsky, Débora, Keselman, Ana C., Lemons, Rosemary M., Mortensen, Amanda H., Marti, Marcelo A., Camper, Sally A., Kitzman, Jacob O.
Publicado no Mol Genet Genomic Med (2018)