| 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 |
| Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations DJ Fonseca, LC Patiño, YC Suárez, A de Jesús Rodríguez, HE Mateus, ... Fertility and sterility 104 (1), 154-162. e2, 2015 | 78 | 2015 |
| Evidence of association between SNAP25 gene and attention deficit hyperactivity disorder in a Latin American sample JM Gálvez, DA Forero, DJ Fonseca, HE Mateus, C Talero-Gutierrez, ... ADHD Attention Deficit and Hyperactivity Disorders 6, 19-23, 2014 | 44 | 2014 |
| 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 |
| 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 |
| Evidence of an association between 10/10 genotype of DAT1 and endophenotypes of attention deficit/hyperactivity disorder JA Agudelo, JM Galvez, DJ Fonseca, HE Mateus, C Talero-Gutiérrez, ... Neurología (English Edition) 30 (3), 137-143, 2015 | 24 | 2015 |
| Deleciones en el gen de la distrofina en 62 familias colombianas: correlación genotipofenotipo 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, 169-178, 2018 | 22 | 2018 |
| A severe familial phenotype of Ichthyosis Curth–Macklin caused by a novel mutation in the KRT1 gene DJ Fonseca, RF Rojas, JI Vergara, X Ríos, 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 |
| Lack of association of polymorphisms in six candidate genes in colombian adhd patients DJ Fonseca, HE Mateus, JM Gálvez, DA Forero, C Talero-Gutierrez, ... Annals of neurosciences 22 (4), 217, 2015 | 20 | 2015 |
| Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease MY Niño, HE Mateus, DJ Fonseca, MA Kroos, SY Ospina, JF Mejía, ... JIMD Reports-Case and Research Reports, 2012/4, 39-48, 2013 | 20 | 2013 |
| 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 |
| A de novo 14q12q13. 3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin DJ Fonseca, CF Prada, LM Siza, D Angel, YM Gomez, CM Restrepo, ... American Journal of Medical Genetics Part A 158 (3), 689-693, 2012 | 18 | 2012 |
| Population data on 15 autosomal STRs in a sample from Colombia P Sánchez-Diz, MA Acosta, D Fonseca, M Fernández, Y Gomez, M Jay, ... Forensic Science International: Genetics 3 (3), e81-e82, 2009 | 18 | 2009 |
| Hemofilia: diagnóstico molecular y alternativas de tratamiento SM Berme, CT Silva, DJ Fonseca, CM Restrepo Colombia Médica 38 (3), 308-315, 2007 | 18* | 2007 |
