selected publications academic article Whole-exome sequencing in patients affected by Stevens-Johnson syndrome and toxic epidermal necrolysis reveals new variants potentially contributing to the phenotype 2021-3-1 A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies 2020-12-17 Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing 2020-10-1 DNA demethylation agent 5azadC downregulates HPV16 E6 expression in cervical cancer cell lines independently of TBX2 expression 2020-1-1 Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology 2019-1-1 5azadC treatment upregulates miR-375 level and represses HPV16 E6 expression 2017-1-1 Long-term storage and safe retrieval of human papillomavirus DNA using FTA elute cards 2016-3-1 Diagnostic moléculaire des papillomavirus humains (HPV) : quel(s) test(s) en pratique clinique ? 2016-11-1 Methylation of human papillomavirus type 16 CpG sites at E2-binding site 1 (E2BS1), E2BS2, and the Sp1-binding site in cervical cancer samples as determined by high-resolution melting analysis-PCR 2013-10-1 letter A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency. 245-246. 2018-8-1
principal investigator on Functional genomics for the description of mutations in the molecular diagnosis of sporadic colon and rectal cancer in a Colombian population. 2021-01-01 - 2022-12-31 Implication of 3'UTR sequence variation in breast cancer. 2021-11-23 - 2022-11-23
co-principal investigator on A method to identify rare diseases with translational research in biogeographic isolates from the Boyacá department exploring ancestry. 2021-12-23 - 2024-11-26 Implication of polygenic risk on platelet reactivity in patients with acute coronary syndrome treated with clopidogrel. 2021-11-10 - 2023-12-10 Factores genéticos asociados a la severidad clínica en población colombiana afectada por SARS-CoV-2 2022-02-01 - 2023-08-31 Genómica funcional para la descripción de mutaciones en el diagnóstico molecular del cáncer de seno esporádico en población colombiana 2022-02-01 - 2023-08-31 Impact of genetic and non-genetic factors on the severity of SARS-CoV-2 infection: towards the generation of a risk prediction model in a Colombian population. 2021-03-01 - 2022-03-31
mailing address Universidad del Rosario. Sede Quinta de Mutis. Carrera 24 # 63C-69 Bogotá 111221 Colombia