| Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans P Laissue, B Lakhal, M Vatin, F Batista, G Burgio, E Mercier, ED Santos, ... Open biology 6 (10), 160109, 2016 | 26 | 2016 |
| FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia P Quintero-Ronderos, KM Jiménez, C Esteban-Pérez, DA Ojeda, S Bello, ... Molecular Medicine 25, 1-8, 2019 | 19 | 2019 |
| Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis DJ Fonseca, LA Caro, DC Sierra-Díaz, C Serrano-Reyes, O Londoño, ... Human Genetics 138, 1267-1274, 2019 | 6 | 2019 |
| Structural modelling of kcnq1 and kcnh2 double mutant proteins, identified in two severe long qt syndrome cases, reveals new insights into cardiac channelopathies WA Agudelo, SR Gil-Quiñones, A Fonseca, A Arenas, L Castro, ... International Journal of Molecular Sciences 22 (23), 12861, 2021 | 3 | 2021 |
| DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation M Elzaiat, D Flatters, DC Sierra-Díaz, B Legois, P Laissue, RA Veitia Human Genetics 139, 1455-1470, 2020 | 3 | 2020 |
| Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients DC Sierra-Díaz, A Morel, DJ Fonseca-Mendoza, NC Bravo, ... Human Genomics 18 (1), 68, 2024 | 2 | 2024 |
| Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer DC Sierra-Díaz, R Cabrera, LA Gonzalez-Vasquez, M Angulo-Aguado, ... The Application of Clinical Genetics, 57-62, 2024 | | 2024 |
| Abstract P3-07-05: Genetic profile of germline mutations in unselected women with breast cancer in a Colombian population DC Sierra-Díaz, A Morel, DJ Fonseca, N Contreras, M Angulo-Aguado, ... Cancer Research 82 (4_Supplement), P3-07-05-P3-07-05, 2022 | | 2022 |
| Estudio de la localización subcelular de la mutación THBD-P. trp153gly identificada en pacientes con aborto espontáneo recurrente DC Sierra Diaz Universidad del Rosario, 2018 | | 2018 |
