Projects per year
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Collaborations and top research areas from the last five years
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CRISPR and nanopore targeted sequencing for genotyping highly polymorphic genes.
Cabrera Perez, R. & Ortega Recalde, O. J.
2/8/22 → 2/8/24
Project: Research Project
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Implication of 3'UTR sequence variation in breast cancer.
Morel, A., Ortega Recalde, O. J., Restrepo Fernandez, C. M., Fonseca Mendoza, D. J., Contreras Bravo, N. C. & Cabrera Perez, R.
11/23/21 → 11/5/24
Project: Research Project
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Implication of polygenic risk on platelet reactivity in patients with acute coronary syndrome treated with clopidogrel.
Fonseca Mendoza, D. J., Ortega Recalde, O. J., Cabrera Perez, R., Morel, A., Contreras Bravo, N. C., Calderon Ospina, C. A. & Murcia Soriano, L. F.
11/10/21 → 12/10/23
Project: Research Project
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Genómica funcional y genética molecular de patologías frecuentes
Restrepo Fernandez, C. M., Fonseca Mendoza, D. J., Contreras Bravo, N. C., Morel, A., Silva Aldana, C. T., Arcos Burgos, O. M. & Cabrera Perez, R.
1/21/13 → 12/22/25
Project: Program/Agenda of research
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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., Fonseca Mendoza, D. J. & Restrepo Fernandez, C. M.
1/15/24 → 6/17/24
Project: Research Project
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Next-generation sequencing of postmortem molecular markers to support for medicolegal autopsy
Cabrera Perez, R., Medina Rocha, A. H., Alape, J. & Bermudez-Santana, C. I., Nov 14 2022, In: Forensic Science International: Reports. 6, p. 1-8 8 p., 100300.Research output: Contribution to journal › Article › peer-review
Open Access -
Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 Assay for the Detection of SARS-CoV-2 in Nasopharyngeal Swab Samples
Jiménez, K. M., Fonseca-Mendoza, D. J., Morel, A., Ortega-Recalde, O., Contreras Bravo, N. C., Velandia-Piedrahita, C. A., Steevens, A., Caldas, L. D., Ribón, J. P., Sánchez, M., Restrepo, C. M. & Cabrera, R., Sep 21 2022, In: Methods and Protocols. 5, 5, p. 1-10 10 p., 73.Research output: Contribution to journal › Article › peer-review
Open Access -
Structural modelling of kcnq1 and kcnh2 double mutant proteins, identified in two severe long qt syndrome cases, reveals new insights into cardiac channelopathies
Agudelo, W. A., Gil-Quiñones, S. R., Fonseca, A., Arenas, A., Castro, L., Sierra-Díaz, D. C., Patarroyo, M. A., Laissue, P., Suárez, C. F. & Cabrera, R., Dec 1 2021, In: International Journal of Molecular Sciences. 22, 23, 12861.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
Velandia-Piedrahita, C. A., Morel, A., Fonseca-Mendoza, D. J., Huertas-Quiñones, V. M., Castillo, D., Bonilla, J. D., Hernandez-Toro, C. J., Miranda-Fernández, M. C., Restrepo, C. M. & Cabrera, R., Dec 17 2020, In: Application of Clinical Genetics. 13, p. 233-240 8 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2
Miranda-Fernández, M-C., Ramírez-Oyaga, S., Restrepo, C. M., Huertas-Quiñones, V-M., Barrera-Castañeda, M., Quero, R., Hernández-Toro, C-J., Tamar Silva, C., Laissue, P. & Cabrera, R., May 2018, In: Molecular Syndromology. 9, 3, p. 164-169 6 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations
Press/Media
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Researchers from Fundacion Cardioinfantil-Instituto de Cardiologia Publish New Studies and Findings in the Area of COVID-19 (Performance Comparison of a Duplex Implementation of the CDC EUA 2019-nCoV Assay with the Seegene Allplex-SARS-CoV-2 ...)
11/7/22
1 item of Media coverage
Press/Media: Press / Media
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Safety comes first as medical professionals prepare to resume elective surgeries
4/29/20
1 item of Media coverage
Press/Media: Press / Media