11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans

por Albino, Elinette, Buxo, Carmen, Scaglia, Fernando, Santiago-Cornier, Alberto
Publicado 2021

360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits

por Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Publicado 2022

Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome

por Benítez Ríos, Fabiola A, Rodríguez-Fernández, Laura F, Arciniegas, Norma J, Santiago Cornier, Alberto, Carlo, Simón
Publicado 2023

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

por Cruz-Centeno, Nelimar, Saenz-Maisonet, Jean F., López-Dones, Paola M., Santiago-Cornier, Alberto, Ortiz-Justiniano, Victor N.
Publicado 2022

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico

por Albino, Elinette M, Martinez, Karen, Carlo, Simon, Chapel-Crespo, Cristel, Ortiz, Antonio, Santiago-Cornier, Alberto, Velez-Bartolomei, Frances, Buxo, Carmen
Publicado 2023

HIV-1 infection in dendritic cells in HAART suppressed patients

por Maldonado, lrvin M, Almodóvar, Sharilyn, Marrero, Giselle, Colón, María del C, López, Juan C, Rosado, Jesús, Domínguez, Carlos, Herrera, René, Hill, Martin, Cornier, Alberto S, Lorenzo, Eric
Publicado 2006

A Phase II, Randomized, Safety and Immunogenicity Trial of a Re-Derived, Live-Attenuated Dengue Virus Vaccine in Healthy Children and Adults Living in Puerto Rico

por Bauer, Kristen, Esquilin, Ines O., Cornier, Alberto Santiago, Thomas, Stephen J., Quintero del Rio, Ana I., Bertran-Pasarell, Jorge, Morales Ramirez, Javier O., Diaz, Clemente, Carlo, Simon, Eckels, Kenneth H., Tournay, Elodie, Toussaint, Jean-Francois, De La Barrera, Rafael, Fernandez, Stefan, Lyons, Arthur, Sun, Wellington, Innis, Bruce L.
Publicado 2015

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

por Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.
Publicado 2020