| Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803, 2015 | 173 | 2015 |
| Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genetics 47 (8), 962, 2015 | 173* | 2015 |
| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis CP Diggle, DA Parry, CV Logan, P Laissue, C Rivera, CM Restrepo, ... Human mutation 33 (8), 1175-1181, 2012 | 101 | 2012 |
| Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1 A Fernandez‐L, F Sanz‐Rodriguez, R Zarrabeitia, A Perez‐Molino, ... Human mutation 27 (3), 295-295, 2006 | 74 | 2006 |
| Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability O Ortega‐Recalde, OI Beltrán, JM Gálvez, A Palma‐Montero, ... Clinical genetics 88 (4), e1-e3, 2015 | 50 | 2015 |
| CFTR mutations in three Latin American countries CM Restrepo, L Pineda, A Rojas‐Martínez, CA Gutiérrez, A Morales, ... American journal of medical genetics 91 (4), 277-279, 2000 | 49 | 2000 |
| Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians OC Vanegas, B Giusti, CMR Fernandez, R Abbate, G Pepe Thrombosis and haemostasis 79 (4), 883-883, 1998 | 43 | 1998 |
| Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity H Yupanqui-Lozno, RA Bastarrachea, ME Yupanqui-Velazco, ... Genes 10 (5), 342, 2019 | 42 | 2019 |
| Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology O Ortega-Recalde, JI Vergara, DJ Fonseca, X Ríos, H Mosquera, ... PLoS One 8 (6), e64692, 2013 | 40 | 2013 |
| BMP15 c.-9C> G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure DJ Fonseca, O Ortega-Recalde, C Esteban-Perez, H Moreno-Ortiz, ... Reproductive biomedicine online 29 (5), 627-633, 2014 | 35 | 2014 |
| Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype D Ojeda, B Lakhal, DJ Fonseca, R Braham, H Landolsi, HE Mateus, ... Fertility and sterility 95 (8), 2658-2660. e1, 2011 | 35 | 2011 |
| Genetics and genomic medicine in Colombia M De Castro, CM Restrepo Molecular genetics & genomic medicine 3 (2), 84, 2015 | 31 | 2015 |
| A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations O Ortega-Recalde, DJ Fonseca, LC Patiño, JJ Atuesta, C Rivera-Nieto, ... Mitochondrion 13 (6), 749-754, 2013 | 26 | 2013 |
| CITED2 mutations potentially cause idiopathic premature ovarian failure DJ Fonseca, D Ojeda, B Lakhal, R Braham, S Eggers, E Turbitt, S White, ... Translational Research 160 (5), 384-388, 2012 | 26 | 2012 |
| Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipo-fenotipo para la distrofia muscular de Duchenne y Becker. CT Silva, D Fonseca, CM Restrepo, NC Contreras, HE Mateus Colombia Médica 35 (4), 191-198, 2004 | 23 | 2004 |
| Creating and validating a warfarin pharmacogenetic dosing algorithm for Colombian patients JM Galvez, CM Restrepo, NC Contreras, C Alvarado, ... Pharmacogenomics and personalized medicine 11, 169, 2018 | 22 | 2018 |
| A severe familial phenotype of Ichthyosis Curth–Macklin caused by a novel mutation in theKRT1gene D Fonseca, R Rojas, J Vergara, X Rios, C Uribe, L Chavez, F Velandia, ... British Journal of Dermatology 168 (2), 456-458, 2013 | 22 | 2013 |
| PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia LM Jay, H Mateus, D Fonseca, CM Restrepo, G Keyeux Colombia Médica 37 (3), 176-182, 2006 | 21 | 2006 |
| Screening for mutations of the FOXO4 gene in premature ovarian failure patients DJ Fonseca, E Garzón, B Lakhal, R Braham, D Ojeda, H Elghezal, A Saâd, ... Reproductive biomedicine online 24 (3), 339-341, 2012 | 20 | 2012 |
| Deficiencia de glucosa 6-fosfato deshidrogenasa: aspectos generales de la eritroenzimopatía más frecuente en el mundo D Fonseca, H Mateus, C Silva, N Contreras, C Restrepo Acta Medica Colombiana 30 (2), 59-64, 2005 | 20 | 2005 |
