Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI O Camacho Vanegas, E Bertini, RZ Zhang, S Petrini, C Minosse, ... Proceedings of the National Academy of Sciences 98 (13), 7516-7521, 2001 | 355 | 2001 |
Targeted inhibition of the KLF6 splice variant, KLF6 SV1, suppresses prostate cancer cell growth and spread G Narla, A DiFeo, S Yao, A Banno, E Hod, HL Reeves, RF Qiao, ... Cancer Research 65 (13), 5761-5768, 2005 | 202 | 2005 |
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis JA Martignetti, L Tian, D Li, MCM Ramirez, O Camacho-Vanegas, ... The American Journal of Human Genetics 92 (6), 1001-1007, 2013 | 196 | 2013 |
Heterogeneity in world distribution of the thermolabile C677T mutation in 5, 10-methylenetetrahydrofolate reductase G Pepe, OC Vanegas, B Giusti, T Brunelli, R Marcucci, M Attanasio, ... The American Journal of Human Genetics 63 (3), 917-920, 1998 | 185 | 1998 |
Maternally transmitted severe glucose 6‐phosphate dehydrogenase deficiency is an embryonic lethal L Longo, OC Vanegas, M Patel, V Rosti, H Li, J Waka, T Merghoub, ... The EMBO journal, 2002 | 179 | 2002 |
Personalized circulating tumor DNA biomarkers dynamically predict treatment response and survival in gynecologic cancers E Pereira, O Camacho-Vanegas, S Anand, R Sebra, S Catalina Camacho, ... PloS one 10 (12), e0145754, 2015 | 167 | 2015 |
Roles of KLF6 and KLF6-SV1 in ovarian cancer progression and intraperitoneal dissemination A DiFeo, G Narla, J Hirshfeld, O Camacho-Vanegas, J Narla, SL Rose, ... Clinical Cancer Research 12 (12), 3730-3739, 2006 | 134 | 2006 |
Prevalence of factor V Leiden mutation in non-European populations G Pepe, O Rickards, OC Vanegas, T Brunelli, AM Gori, B Giusti, ... Thrombosis and haemostasis 77 (02), 329-331, 1997 | 125 | 1997 |
Genomic analysis of uterine lavage fluid detects early endometrial cancers and reveals a prevalent landscape of driver mutations in women without histopathologic evidence of … N Nair, O Camacho-Vanegas, D Rykunov, M Dashkoff, SC Camacho, ... PLoS Medicine 13 (12), e1002206, 2016 | 102 | 2016 |
Functional inactivation of the KLF6 tumor suppressor gene by loss of heterozygosity and increased alternative splicing in glioblastoma O Camacho‐Vanegas, G Narla, MS Teixeira, A DiFeo, A Misra, G Singh, ... International journal of cancer 121 (6), 1390-1395, 2007 | 94 | 2007 |
E-cadherin is a novel transcriptional target of the KLF6 tumor suppressor A DiFeo, G Narla, O Camacho-Vanegas, H Nishio, SL Rose, RE Buller, ... Oncogene 25 (44), 6026-6031, 2006 | 94 | 2006 |
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice A Shalata, MC Ramirez, RJ Desnick, N Priedigkeit, C Buettner, C Lindtner, ... The American Journal of Human Genetics 93 (6), 1061-1071, 2013 | 76 | 2013 |
Personalized ovarian cancer disease surveillance and detection of candidate therapeutic drug target in circulating tumor DNA JA Martignetti, O Camacho-Vanegas, N Priedigkeit, C Camacho, ... Neoplasia 16 (1), 97-W29, 2014 | 72 | 2014 |
Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome BR Evans, RA Mosig, M Lobl, CR Martignetti, C Camacho, V Grum-Tokars, ... The American Journal of Human Genetics 91 (3), 572-576, 2012 | 72 | 2012 |
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy S Lucioli, B Giusti, E Mercuri, OC Vanegas, L Lucarini, V Pietroni, ... Neurology 64 (11), 1931-1937, 2005 | 66 | 2005 |
Decreased levels of serum glutathione peroxidase 3 are associated with papillary serous ovarian cancer and disease progression D Agnani, O Camacho-Vanegas, C Camacho, S Lele, K Odunsi, S Cohen, ... Journal of ovarian research 4, 1-8, 2011 | 63 | 2011 |
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker G Pepe, OC Vanegas, O Rickards, B Giusti, P Comeglio, T Brunelli, ... Human genetics 104, 126-129, 1999 | 49 | 1999 |
KLF6 allelic loss is associated with tumor recurrence and markedly decreased survival in head and neck squamous cell carcinoma MS Teixeira, O Camacho‐Vanegas, Y Fernandez, G Narla, A DiFeo, ... International journal of cancer 121 (9), 1976-1983, 2007 | 46 | 2007 |
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 (04), 883-883, 1998 | 43 | 1998 |
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10–11 November 2000, Naarden, The Netherlands G Pepe, M de Visser, E Bertini, K Bushby, OC Vanegas, ML Chu, ... Neuromuscular Disorders 12 (3), 296-305, 2002 | 40 | 2002 |