Projects per year
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- 1 Similar Profiles
Collaborations and top research areas from the last five years
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Determination of the mutational spectrum of genes related to the molecular etiology of gliomas in a sample of Colombian patients.
Fonseca Mendoza, D. J. (PI), Contreras Bravo, N. C. (PI), Velandia Hurtado, F. A. (PI), CHINCHILLA, A. (PI) & echeverria, O. (Student)
1/1/23 → 7/1/26
Project: Research Project
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Functional genomics for the description of mutations in the molecular diagnosis of sporadic breast cancer in the Colombian population.
Restrepo Fernandez, C. M. (PI), Mantilla, W. (PI), Ortega Recalde, O. J. (CoI), Contreras Bravo, N. C. (CoI), sierra, D. (Student), Cabrera Perez, R. (CoI), Fonseca Mendoza, D. J. (CoI), Morel, A. (CoI), Angulo Aguado, M. (Student) & abaunza, C. (Student)
2/1/22 → 6/18/27
Project: Research Project
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Analysis of genetic variants potentially related to interindividual variability in response to drugs in wide clinical use.
Laissue Hormaza, P. (PI), Fonseca Mendoza, D. J. (CoI), Contreras Bravo, N. C. (CoI), Calderon Ospina, C. A. (CoI) & echeverria, O. (Student)
3/15/18 → 12/17/27
Project: Research Project
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Genetic factors associated with clinical severity in the Colombian population affected by SARS-CoV-2.
Fonseca Mendoza, D. J. (PI), Ortega Recalde, O. J. (PI), Restrepo Fernandez, C. M. (CoI), Contreras Bravo, N. C. (CoI), Morel, A. (CoI), Cabrera Perez, R. (CoI), Usaquen Martínez, W. (CoI), Casas Vargas, L. A. (CoI), Mogollón Olivares, M. F. (CoI), Abaunza, K. P. (CoI) & Angulo Aguado, M. (Student)
2/1/22 → 8/31/23
Project: Research Project
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Implication of 3'UTR sequence variation in breast cancer.
Morel, A. (PI), Ortega Recalde, O. J. (CoI), Restrepo Fernandez, C. M. (CoI), Fonseca Mendoza, D. J. (PI), Contreras Bravo, N. C. (PI), Cabrera Perez, R. (PI) & gonzalez, L. (Student)
11/23/21 → 11/5/24
Project: Research Project
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Research output
- 23 Research Article
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Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
Bernal-Bonilla, I. T., Arias-Florez, J. S., Ramirez, S. X., Bayona-Gomez, B. A., Castro-Castillo, L., Correa-Martinez, V., Sanchez-Gomez, Y., Santiago-Tovar, N., Gaviria-Sabogal, C. C., Contreras Bravo, N. C., Cabrera, R., Morel, A., Fonseca-Mendoza, D. J. & Restrepo, C. M., 2025, In: Application of Clinical Genetics. 18, p. 165-173 9 p.Research output: Contribution to Journal › Research Article › peer-review
Open Access -
Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer
Rodriguez-Salamanca, J., Angulo-Aguado, M., Orjuela-Amarillo, S., Duque, C., Sierra-Díaz, D. C., Contreras Bravo, N., Figueroa, C., Restrepo, C. M., López-Cortés, A., Cabrera, R., Morel, A. & Fonseca-Mendoza, D. J., 2025, In: Frontiers in Oncology. 15, 1568205.Research output: Contribution to Journal › Research Article › peer-review
1 Scopus citations -
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data
Gaviria-Sabogal, C. C., Bernal, I. T., Sánchez-Gómez, Y., Usaquén, W., Casas-Vargas, A., Contreras Bravo, N., Morel, A., Fonseca-Mendoza, D. J., Restrepo, C. M. & Cabrera, R., Oct 5 2025, In: Human Molecular Genetics. 34, 20, p. 1733-1743 11 p.Research output: Contribution to Journal › Research Article › peer-review
Open Access -
Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer
Sierra-Díaz, D. C., Cabrera, R., Gonzalez-Vasquez, L. A., Angulo-Aguado, M., Llinás-Caballero, K., Fonseca-Mendoza, D. J., Contreras-Bravo, N. C., Restrepo, C. M., Ortega-Recalde, O. & Morel, A., 2024, In: Application of Clinical Genetics. 17, p. 57-62 6 p.Research output: Contribution to Journal › Research Article › peer-review
Open Access -
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population
Angulo-Aguado, M., Carrillo-Martinez, J. C., Contreras-Bravo, N. C., Morel, A., Parra-Abaunza, K., Usaquén, W., Fonseca-Mendoza, D. J. & Ortega-Recalde, O., Jan 2024, In: Scientific Reports. 14, 1, p. 8497 17 p., 8497.Research output: Contribution to Journal › Research Article › peer-review
Open Access8 Scopus citations
Prizes
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Mención de honor Premios de la Academia Nacional de Medicina 2019
De la Torre Cifuentes, L. A. (Recipient), Silva Aldana, C. T. (Recipient), Muñoz-Ortiz, J. (Recipient), Piñeros, L. (Recipient), Otero, O. (Recipient), Domínguez, A. (Recipient), Faciolince, L. (Recipient), Arcos Holzinger, O. M. (Recipient), Mastronardi, C. A. (Recipient), Contreras Bravo, N. C. (Recipient), Restrepo Fernandez, C. M. (Recipient) & Arcos Burgos, O. M. (Recipient), Oct 1 2019
Prize
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Press/Media
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University of Rosario Researchers Highlight Recent Research in COVID-19 (Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population)
Fonseca Mendoza, D. J., Contreras Bravo, N. C. & Morel, A.
4/30/24
1 item of Media coverage
Press/Media: Press / Media
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University of Rosario Researchers Target Colon Cancer (Functional analysis of CTLA4 promoter variant and its possible implication in colorectal cancer immunotherapy)
Fonseca Mendoza, D. J., Morel, A. & Contreras Bravo, N. C.
8/18/23
1 item of Media coverage
Press/Media: Press / Media