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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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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Familial ocular toxoplasmosis: Clinical and Genetic Characterization in two affected families
De la Torre Cifuentes, L. A. (PI) & Fonseca Mendoza, D. J. (PI)
1/11/25 → 1/11/26
Project: Research Project
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Implication of pharmacogenetic polymorphism in the development of bilateral acute iris illumination syndrome (BAIT) in a cohort of Colombian patients.
De la Torre Cifuentes, L. A. (PI) & Fonseca Mendoza, D. J. (PI)
2/1/24 → 2/1/25
Project: Research Project
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Endogamia, consanguinidad, violencias e historias familiares en Boyacá: una lectura entre la genética de poblaciones y la antropología social
Llanos, J. C. G., Casas-Vargas, A., Fonseca-Mendoza, D. J., Restrepo, C. M., Gómez, Y. S. & Usaquén-Martínez, W., Jan 2026, In: Revista Colombiana de Antropologia. 62, 1, e2994.Translated title of the contribution :Inbreeding, Consanguinity, Violence, and Family Histories in Boyacá: An Interpretation Between Population Genetics and Social Anthropology Research output: Contribution to Journal › Research Article › peer-review
Open Access -
Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients
Echeverría, O., Patiño-Aldana, A. F., Chinchilla, A. M., Contreras, N., Peralta, S., Caballero, N., Tovar, H. V., Palacio, J. M., Uribe, V., Mineo-Pachón, M., Velandia, F., Castillo, W. M. R., Valero, N., Silgado-Guzmán, D. F., Ondo-Mendez, A. & Fonseca-Mendoza, D. J., 2026, In: Frontiers in Neurology. 16, 1691983.Research output: Contribution to Journal › Research Article › peer-review
Open Access1 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 -
Integrating Molecular Profiling into Glioma Diagnosis: Implications of the WHO-CNS5-2021 Classification (P4-6.008)
Aldana, A. F. P., Echeverría, O., Chinchilla, A. M., Contreras, N., Peralta, C., Caballero, N., Tovar-Romero, H. V., Palacio, J. M., Uribe, V., Mineo, M., Velandia, F., Silgado, D., Castillo, W. M. R., Méndez, A. O. O. & Mendoza, D. J. F., Apr 7 2025, In: Neurology. 104, 7_Supplement_1, p. 4-6 3 p., 008.Translated title of the contribution :Integración del perfil molecular en el diagnóstico de gliomas: implicaciones de la clasificación WHO-CNS5-2021 (P4-6.008) Research output: Contribution to Journal › Literature review › peer-review
Prizes
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Press/Media
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Research from University of Rosario in the Area of Personalized Medicine Described (Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients)
Fonseca Mendoza, D. J., Contreras Bravo, N. C. & Ondo Mendez, A. O.
1/19/26
1 item of Media coverage
Press/Media: 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