Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations
Fonseca, Dora Janeth, Ph.D, Patiño, Liliana Catherine, M.Sc, Suárez, Yohjana Carolina, M.Sc, de Jesús Rodríguez, Asid, M.Sc, Mateus, Heidi Eliana, M.D., M.Sc, Jiménez, Karen Marcela, M.Sc, Ortega-Recalde, Oscar, M.D., M.Sc, Díaz-Yamal, Ivonne, M.D, Laissue, Paul, M.D., Ph.D
Published in Fertility and sterility (01.07.2015)
Published in Fertility and sterility (01.07.2015)
Get full text
Journal Article
THBD sequence variants potentially related to recurrent pregnancy loss
Quintero-Ronderos, Paula, Mercier, Eric, Gris, Jean-Christophe, Esteban-Perez, Clara, Moreno-Ortiz, Harold, Fonseca, Dora Janeth, Lucena, Elkin, Vaiman, Daniel, Laissue, Paul
Published in Reproductive biology and endocrinology (01.12.2017)
Published in Reproductive biology and endocrinology (01.12.2017)
Get full text
Journal Article
Genetic and Molecular Aspects of Drug-Induced QT Interval Prolongation
Baracaldo-Santamaría, Daniela, Llinás-Caballero, Kevin, Corso-Ramirez, Julián Miguel, Restrepo, Carlos Martín, Dominguez-Dominguez, Camilo Alberto, Fonseca-Mendoza, Dora Janeth, Calderon-Ospina, Carlos Alberto
Published in International journal of molecular sciences (28.07.2021)
Published in International journal of molecular sciences (28.07.2021)
Get full text
Journal Article
Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology
Ortega-Recalde, Oscar, Vergara, Jéssica Inés, Fonseca, Dora Janeth, Ríos, Xiomara, Mosquera, Hernando, Bermúdez, Olga María, Medina, Claudia Liliana, Vargas, Clara Inés, Pallares, Argemiro Enrique, Restrepo, Carlos Martín, Laissue, Paul
Published in PloS one (03.06.2013)
Published in PloS one (03.06.2013)
Get full text
Journal Article
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
Ramírez, Brian, Niño-Orrego, María José, Cárdenas, Daniel, Ariza, Kevin Enrique, Quintero, Karol, Contreras Bravo, Nora Constanza, Tamayo-Agudelo, Caroll, González, María Alejandra, Laissue, Paul, Fonseca Mendoza, Dora Janeth
Published in BMC medical genomics (19.07.2019)
Published in BMC medical genomics (19.07.2019)
Get full text
Journal Article
Association between Paraoxonase-1 p.Q192R Polymorphism and Coronary Artery Disease susceptibility in the Colombian Population
Corredor-Orlandelli, David, Sambracos-Parrado, Santiago, Mantilla-García, Santiago, Tovar-Tirado, Josué, Vega-Ramírez, Valentina, Mendoza-Ayús, Santiago David, Peña, Laura Catalina, Leal, María Fernanda, Rodríguez-Carrillo, Juliana, León-Torres, Juanita, Pardo-Oviedo, Juan Mauricio, Parra Abaunza, Katherine, Contreras Bravo, Nora Contreras, Ortega-Recalde, Oscar, Fonseca Mendoza, Dora Janeth
Published in Vascular health and risk management (01.01.2021)
Published in Vascular health and risk management (01.01.2021)
Get full text
Journal Article
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S, Laissue, Paul
Published in Mitochondrion (01.11.2013)
Published in Mitochondrion (01.11.2013)
Get full text
Journal Article
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients
Sierra-Díaz, Diana Carolina, Morel, Adrien, Fonseca-Mendoza, Dora Janeth, Bravo, Nora Contreras, Molano-Gonzalez, Nicolas, Borras, Mariana, Munevar, Isabel, Lema, Mauricio, Idrobo, Henry, Trujillo, Daniela, Serrano, Norma, Orduz, Ana Isabel, Lopera, Diego, González, Jaime, Rojas, Gustavo, Londono-De Los Ríos, Paula, Manneh, Ray, Cabrera, Rodrigo, Rubiano, Wilson, de la Peña, Jairo, Quintero, María Catalina, Mantilla, William, Restrepo, Carlos M
Published in Human genomics (18.06.2024)
Published in Human genomics (18.06.2024)
Get full text
Journal Article
Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy
Calderon-Ospina, Carlos Alberto, Galvez, Jubby Marcela, López-Cabra, Claudia, Morales, Natalia, Restrepo, Carlos Martín, Rodríguez, Jesús, Aristizábal-Gutiérrez, Fabio Ancízar, Velez-van-Meerbeke, Alberto, Laissue, Paul, Fonseca-Mendoza, Dora Janeth
Published in Frontiers in pharmacology (07.05.2020)
Published in Frontiers in pharmacology (07.05.2020)
Get full text
Journal Article
Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples
Jiménez, Karen Marcela, Fonseca-Mendoza, Dora Janeth, Morel, Adrien, Ortega-Recalde, Oscar, Contreras Bravo, Nora Constanza, Velandia-Piedrahita, Camilo Andres, Steevens, Adriana, Caldas, Luisa Daniela, Ribón, Juan Pablo, Sánchez, Martha, Restrepo, Carlos Martin, Cabrera, Rodrigo
Published in Methods and protocols (21.09.2022)
Published in Methods and protocols (21.09.2022)
Get full text
Journal Article
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
Fonseca, Dora Janeth, Caro, Luz Adriana, Sierra-Díaz, Diana Carolina, Serrano-Reyes, Carlos, Londoño, Olga, Suárez, Yohjana Carolina, Mateus, Heidi Eliana, Bolívar-Salazar, David, Ramírez, Ana Francisca, de-la-Torre, Alejandra, Laissue, Paul
Published in Human genetics (01.12.2019)
Published in Human genetics (01.12.2019)
Get full text
Journal Article
FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
Quintero-Ronderos, Paula, Jiménez, Karen Marcela, Esteban-Pérez, Clara, Ojeda, Diego A, Bello, Sandra, Fonseca, Dora Janeth, Coronel, María Alejandra, Moreno-Ortiz, Harold, Sierra-Díaz, Diana Carolina, Lucena, Elkin, Barbaux, Sandrine, Vaiman, Daniel, Laissue, Paul
Published in Molecular medicine (Cambridge, Mass.) (08.08.2019)
Published in Molecular medicine (Cambridge, Mass.) (08.08.2019)
Get full text
Journal Article
Transcriptomic analysis of FUCA1 knock‐down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions
Valero‐Rubio, Danyela, Jiménez, Karen Marcela, Fonseca, Dora Janeth, Payán‐Gómez, César, Laissue, Paul
Published in Experimental dermatology (01.06.2018)
Published in Experimental dermatology (01.06.2018)
Get full text
Journal Article
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population
Angulo-Aguado, Mariana, Carrillo-Martinez, Juan Camilo, Contreras-Bravo, Nora Constanza, Morel, Adrien, Parra-Abaunza, Katherine, Usaquén, William, Fonseca-Mendoza, Dora Janeth, Ortega-Recalde, Oscar
Published in Scientific reports (11.04.2024)
Published in Scientific reports (11.04.2024)
Get full text
Journal Article
The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing
Echeverría, Omar, Angulo-Aguado, Mariana, Vela, Ricardo, Calderón-Ospina, Carlos, Parra, Katherine, Contreras, Nora, Morel, Adrien, Cabrera, Rodrigo, Restrepo, Carlos, Ramírez-Santana, Carolina, Ortega-Recalde, Oscar, Rojas-Quintana, Manuel Eduardo, Murcia, Luisa, Gaviria-Sabogal, Cristian Camilo, Valero, Nattaly, Fonseca-Mendoza, Dora Janeth
Published in PloS one (11.07.2024)
Published in PloS one (11.07.2024)
Get full text
Journal Article
BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure
Fonseca, Dora Janeth, Ortega-Recalde, Oscar, Esteban-Perez, Clara, Moreno-Ortiz, Harold, Patiño, Liliana Catherine, Bermúdez, Olga María, Ortiz, Angela María, Restrepo, Carlos M, Lucena, Elkin, Laissue, Paul
Published in Reproductive biomedicine online (01.11.2014)
Published in Reproductive biomedicine online (01.11.2014)
Get full text
Journal Article
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing
Silgado-Guzmán, Daniel Felipe, Angulo-Aguado, Mariana, Morel, Adrien, Niño-Orrego, María José, Ruiz-Torres, Daniel-Armando, Contreras Bravo, Nora Constanza, Restrepo, Carlos Martin, Ortega-Recalde, Oscar, Fonseca-Mendoza, Dora Janeth
Published in Frontiers in pharmacology (30.06.2022)
Published in Frontiers in pharmacology (30.06.2022)
Get full text
Journal Article
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations
Parada-Márquez, Juan Fernando, Maldonado-Rodriguez, Nicolás David, Triana-Fonseca, Paula, Contreras-Bravo, Nora Constanza, Calderón-Ospina, Carlos Alberto, Restrepo, Carlos M, Morel, Adrien, Ortega-Recalde, Oscar Javier, Silgado-Guzmán, Daniel Felipe, Angulo-Aguado, Mariana, Fonseca-Mendoza, Dora Janeth
Published in Frontiers in pharmacology (20.03.2023)
Published in Frontiers in pharmacology (20.03.2023)
Get full text
Journal Article
Machine Learning for Prediction of Stable Warfarin Dose in US Latinos and Latin Americans
Steiner, Heidi E., Giles, Jason B., Patterson, Hayley Knight, Feng, Jianglin, El Rouby, Nihal, Claudio, Karla, Marcatto, Leiliane Rodrigues, Tavares, Leticia Camargo, Galvez, Jubby Marcela, Calderon-Ospina, Carlos-Alberto, Sun, Xiaoxiao, Hutz, Mara H., Scott, Stuart A., Cavallari, Larisa H., Fonseca-Mendoza, Dora Janeth, Duconge, Jorge, Botton, Mariana Rodrigues, Santos, Paulo Caleb Junior Lima, Karnes, Jason H.
Published in Frontiers in pharmacology (29.10.2021)
Published in Frontiers in pharmacology (29.10.2021)
Get full text
Journal Article
Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients
Galvez, Jubby Marcela, Restrepo, Carlos Martin, Contreras, Nora Constanza, Alvarado, Clara, Calderón-Ospina, Carlos-Alberto, Peña, Nidia, Cifuentes, Ricardo A, Duarte, Daniela, Laissue, Paul, Fonseca, Dora Janeth
Published in Pharmacogenomics and personalized medicine (01.01.2018)
Published in Pharmacogenomics and personalized medicine (01.01.2018)
Get full text
Journal Article