Projects per year
Fingerprint
Dive into the research topics where Carlos Martin Restrepo Fernandez is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
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
-
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
-
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
-
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
-
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
File
-
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 -
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: Microbiology Resource Announcements. 14, 8Research output: Contribution to journal › Research Article › peer-review
Open Access1 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
-
One-year metreleptin in Colombian sisters with congenital leptin deficiency
Yupanqui-Lozno, H., Huertas-Quintero, J. A., Yupanqui-Velazco, M. E., Salinas-Osornio, R. A., Restrepo, C. M., Gonzalez, A., Nava-Gonzalez, E. J., Celis-Regalado, L. G., Neri Morales, C., Hernandez-Escalante, V. M., Licinio, J., Laviada-Molina, H. A., Rodriguez-Ayala, E., Arango, C. & Bastarrachea, R. A., 2025, In: Adipocyte. 14, 1, 2508188.Research output: Contribution to journal › Research Article › peer-review
-
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
Prizes
-
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
-
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
-
GAT Expo Cartagena: evento na Colômbia consolida posição como espaço para discussão de negócios e tendências na América Latina
Carlos Martin Restrepo Fernandez
4/30/25
1 item of Media coverage
Press/Media: Press / Media
-
New DNA Vaccines Findings from Instituto de Investigaciones Cientificas y Servicios de Alta Tecnologia Described (Advances in Leishmania Vaccines: Current Development and Future Prospects)
Carlos Martin Restrepo Fernandez
10/15/24
1 item of Media coverage
Press/Media: Press / Media
-
Juan José Echavarría: "I remain optimistic about Colombia's future".
8/26/23
1 item of Media coverage
Press/Media: Press / Media