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Clinical Case Reports|October 3, 2025
Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 SyndromeRodrigo Cabrera, Marlon Yesid Barrera Montañez, Sebastian Ramiro Gil-Quiñones, et al.
Human Molecular Genetics|August 15, 2025
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing dataCristian Camilo Gaviria-Sabogal, Ingrid Tatyana Bernal, Yasmín Sánchez-Gómez, et al.
Frontiers in Pharmacology|July 18, 2022
Characterization of ADME Gene Variation in Colombian Population by Exome SequencingDaniel Felipe Silgado-Guzmán, Mariana Angulo-Aguado, Adrien Morel, et al.
The Application of Clinical Genetics|May 28, 2024
Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast CancerDiana Carolina Sierra-Díaz, Rodrigo Cabrera, Laura Alejandra Gonzalez-Vasquez, et al.
The Application of Clinical Genetics|December 28, 2020
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular ElastinopathiesCamilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza, et al.
Frontiers in Medicine|August 21, 2023
Functional analysis of CTLA4 promoter variant and its possible implication in colorectal cancer immunotherapyMariana Angulo-Aguado, Sarah Orjuela-Amarillo, Julián Francisco Mora-Jácome, et al.
Methods and Protocols|October 26, 2022
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 SamplesKaren Marcela Jiménez, Dora Janeth Fonseca-Mendoza, Adrien Morel, et al.
Pregnancy Hypertension|October 15, 2020
Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencingKaren Marcela Jiménez, Adrien Morel, Laura Parada-Niño, et al.
Frontiers in Pharmacology|April 6, 2023
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutationsJuan Fernando Parada-Márquez, Nicolás David Maldonado-Rodriguez, Paula Triana-Fonseca, et al.
Frontiers in Medicine|July 7, 2022
Association Between the LZTFL1 rs11385942 Polymorphism and COVID-19 Severity in Colombian PopulationMariana Angulo-Aguado, David Corredor-Orlandelli, Juan Camilo Carrillo-Martínez, et al.
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