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Collaborations and top research areas from the last five years
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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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Performance verification (secondary validation) of the real-time molecular PCR (RT-qPCR) test on the Vivalytic One®* (Vivalytic SARS-CoV-2) platform for point-of-care (POC) detection of SARS-CoV-2.
Cabrera Perez, R. (PI), Fonseca Mendoza, D. J. (CoI) & Restrepo Fernandez, C. M. (CoI)
1/15/24 → 6/17/24
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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A method to identify rare diseases with translational research in biogeographic isolates from the department of Boyacá exploring ancestry.
Fonseca Mendoza, D. J. (PI), Ortega Recalde, O. J. (CoI), Morel, A. (CoI), Restrepo Fernandez, C. M. (CoI), Usaquen Martínez, W. (CoI), NIÑO, L. E. (CoI), SANCHEZ , Y. (CoI) & gaviria, C. (Student)
12/23/21 → 11/26/24
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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LAMP-coupled CRISPR-Cas12a assays: A promising new tool for molecular diagnosis of leishmaniasis
Dueñas, E., Tirado, I., Huaihua, P., Parra Del Riego, A., Cabrera-Sosa, L., Nakamoto, J. A., Cruz, M., Restrepo, C. M., Arévalo, J. & Adaui, V., Feb 1 2026, In: PLoS Neglected Tropical Diseases. 20, 2, p. e0013456Research output: Contribution to Journal › Research Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
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 -
Genetic Structure of the Y-Chromosome in Colombia: An Analysis of Regional Diversity and Ancestry
Casas-Vargas, A., Guzmán, A. C., Avila, A. J., Albarracin-Barrera, J., Aponte-Rubio, Y., Suárez, D., Moncada Madero, J., Mogollón, F., Bravo, N. C., Morel, A., Cabrera, R., Fonseca-Mendoza, D. J., Bernal, I. T., Restrepo, C. M., Sánchez-Gómez, Y. & Usaquén-Martínez, W., Dec 2025, In: American Journal of Human Biology. 37, 12, e70171.Research output: Contribution to Journal › Research Article › peer-review
1 Link opens in a new tab Scopus citations -
Improved assembly of the Leishmania panamensis strain PSC-1 genome
Fabrega, A., Ortega, A. C., Pardo, L., Restrepo, C. M. & Llanes, A., Aug 2025, In: Genome Announcements. 14, 8Research output: Contribution to Journal › Research Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
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 Link opens in a new tab 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
File
Press/Media
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Researchers from University of Rosario Report Findings in Rare Diseases and Conditions (Refining Rare Disease Variant Discovery In an Isolated Andean Community Through Imputation-enhanced Ibd and Kinship Inference From Whole Exome Sequencing ...)
Fonseca Mendoza, D. J., Contreras Bravo, N. C., Morel, A., Cabrera Perez, R. & Restrepo Fernandez, C. M.
10/22/25
1 item of Media coverage
Press/Media: Press / Media
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New Health and Medicine Findings from School of Medicine and Health Sciences Published (Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome)
Fonseca Mendoza, D. J., Contreras Bravo, N. C., Morel, A., Cabrera Perez, R. & Restrepo Fernandez, C. M.
10/13/25
1 item of Media coverage
Press/Media: Press / Media
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Department of Morphology Researchers Publish New Studies and Findings in the Area of Zellweger Syndrome (Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family)
Fonseca Mendoza, D. J., Contreras Bravo, N. C., Morel, A., Cabrera Perez, R. & Restrepo Fernandez, C. M.
9/19/25
1 item of Media coverage
Press/Media: Press / Media
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Public procurement: reform opens the door to community organizations and sets alarm bells ringing
5/21/25
2 items of Media coverage
Press/Media: Press / Media
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GAT Expo Cartagena: evento na Colômbia consolida posição como espaço para discussão de negócios e tendências na América Latina
4/30/25
1 item of Media coverage
Press/Media: Press / Media