Projects per year
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Collaborations and top research areas from the last five years
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PE: Implications of pharmacogenomic variants in response to phenytoin: towards precision medicine and patient safety
Fonseca Mendoza, D. J. (PI), Restrepo Fernandez, C. M. (CoI), Morel, A. (CoI), Cabrera Perez, R. (CoI), Velez van Meerbeke, A. (PI), Calderon Ospina, C. A. (CoI), AREVALO LARA, A. S. (CoI), Calvache Orozco, J. C. (CoI), Gomez Méndez, A. F. (CoI), Navas Peñaranda, S. S. (CoI), Patiño Rattiva, M. P. (CoI), Rojas Marulanda, J. E. (CoI) & CHINCHILLA, A. M. (CoI)
6/3/25 → 3/3/27
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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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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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 -
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 -
Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams–Oliver Type 6 Syndrome
Cabrera Perez, R., Barrera Montañez, M. Y., Gil-Quiñones, S. R., Motta Beltrán, A., Santiago-Tovar, N., Contreras Bravo, N. C., Fonseca Mendoza, D. J., Restrepo Fernandez, C. M. & Morel, A., Oct 1 2025, In: Clinical Case Reports. 13, 10, p. 1-4 4 p.Research output: Contribution to Journal › Research Article › peer-review
Open Access -
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
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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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