Projects per year
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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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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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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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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
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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 -
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients
Sierra-Díaz, D. C., Morel, A., Fonseca-Mendoza, D. J., Bravo, N. C., Molano-Gonzalez, N., Borras, M., Munevar, I., Lema, M., Idrobo, H., Trujillo, D., Serrano, N., Orduz, A. I., Lopera, D., González, J., Rojas, G., Londono-De Los Ríos, P., Manneh, R., Cabrera, R., Rubiano, W. & de la Peña, J. & 3 others, , Dec 2024, In: Human Genomics. 18, 1, 68.Research output: Contribution to journal › Research Article › peer-review
Open Access3 Scopus citations -
Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1
Arias-Flórez, J. S., Ramirez, S. X., Bayona-Gomez, B., Castro-Castillo, L., Correa-Martinez, V., Sanchez-Gomez, Y., Usaquén-Martínez, W., Casas-Vargas, L. A., Olmos, C. E. O., Bravo, N. C., Velandia-Piedrahita, C. A., Morel, A., Cabrera-Perez, R., Santiago-Tovar, N., Gaviria-Sabogal, C. C., Bernal, I. T., Fonseca-Mendoza, D. J. & Restrepo, C. M., Dec 2024, In: PLOS ONE. 19, 12, e0311316.Research output: Contribution to journal › Research Article › peer-review
Open Access1 Scopus citations
Prizes
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PREMIO DR. FRIEDRICH VOGEL
Fonseca Mendoza, Dora Janeth (Recipient) & ORJUELA, SARAH (Recipient), 2023
Prize
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Reconocimiento de Excelencia
Fonseca Mendoza, Dora Janeth (Recipient) & Duarte, Daniela (Recipient), 2020
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
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Recent Findings from Bogota Highlight Research in Pharmacogenomics (Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations)
Fonseca Mendoza, D. J. & Restrepo Fernandez, C. M.
4/3/23
1 item of Media coverage
Press/Media: Press / Media