First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

por Olave-Rodriguez, Jorge Andres, Bonilla-Escobar, Francisco Javier, Candelo, Estephania, Rodriguez-Rojas, Lisa Ximena
Publicado 2021

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas

por Rodriguez-Rojas, Lisa Ximena, Candelo, Estephania, Pachajoa, Harry, Garcia-Robledo, Juan Esteban, Nastasi-Catanese, Jose Antonio, Olave-Rodriguez, Jorge Andres, Zambrano, Angela R
Publicado 2023

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

por Dittwald, Piotr, Gambin, Tomasz, Szafranski, Przemyslaw, Li, Jian, Amato, Stephen, Divon, Michael Y., Rodríguez Rojas, Lisa Ximena, Elton, Lindsay E., Scott, Daryl A., Schaaf, Christian P., Torres-Martinez, Wilfredo, Stevens, Abby K., Rosenfeld, Jill A., Agadi, Satish, Francis, David, Kang, Sung-Hae L., Breman, Amy, Lalani, Seema R., Bacino, Carlos A., Bi, Weimin, Milosavljevic, Aleksandar, Beaudet, Arthur L., Patel, Ankita, Shaw, Chad A., Lupski, James R., Gambin, Anna, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado 2013