Rodrigo Cabrera
7PUBLICATIONS
22CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (7)
Sort by Publication Date:
|Sep 11, 2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.Ingrid Tatyana Bernal-Bonilla, Juan Sebastian Arias-Florez, Sandra Ximena Ramirez
|Aug 15, 2025
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.Cristian Camilo Gaviria-Sabogal, Ingrid Tatyana Bernal, Yasmín Sánchez-Gómez
|May 28, 2024
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.Diana Carolina Sierra-Díaz, Rodrigo Cabrera, Laura Alejandra Gonzalez-Vasquez
|Dec 10, 2021
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.William A Agudelo, Sebastian Ramiro Gil-Quiñones, Alejandra Fonseca
|Dec 28, 2020
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.Camilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza
|Mar 24, 2018
Identification of clinically relevant phenotypes in patients with Ebstein anomaly.Rodrigo Cabrera, Marta Catalina Miranda-Fernández, Victor Manuel Huertas-Quiñones
Pageof 2
Frequent Collaborators
3 joint publications
Adrien Morel
3 joint publications
Dora Janeth Fonseca-Mendoza
2 joint publications
Marta Catalina Miranda-Fernández
2 joint publications
Victor Manuel Huertas-Quiñones
2 joint publications
Carlos Martin Restrepo
1 joint publications
Juan David Cano
1 joint publications
Néstor Sandoval
1 joint publications
Karen Julieth Moreno Medina
1 joint publications
Rodolfo José Dennis Verano
1 joint publications
Camilo Andres Velandia-Piedrahita
