| Review and update on the molecular basis of Leber congenital amaurosis OF Chacon-Camacho, JC Zenteno World Journal of Clinical Cases: WJCC 3 (2), 112, 2015 | 146 | 2015 |
| Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25 A Rojas‐Martinez, H Reutter, O Chacon‐Camacho, RBR Leon‐Cachon, ... Birth Defects Research Part A: Clinical and Molecular Teratology 88 (7), 535-537, 2010 | 73 | 2010 |
| Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome S Siddiqui, JC Zenteno, A Rice, O Chacón-Camacho, SG Naylor, ... Cornea 33 (3), 247-251, 2014 | 57 | 2014 |
| ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p. A1773V mutation OF Chacón-Camacho, M Granillo-Alvarez, R Ayala-Ramírez, JC Zenteno Experimental eye research 109, 77-82, 2013 | 51 | 2013 |
| Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies OF Chacon‐Camacho, D Lopez‐Moreno, MA Morales‐Sanchez, ... Molecular Genetics & Genomic Medicine 7 (5), e625, 2019 | 42 | 2019 |
| Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing JC Zenteno, LA García‐Montaño, M Cruz‐Aguilar, J Ronquillo, ... Molecular genetics & genomic medicine 8 (1), 2020 | 37 | 2020 |
| Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome OF Chacon‐Camacho, J Vázquez, JC Zenteno American Journal of Medical Genetics Part A 155 (7), 1716-1720, 2011 | 24 | 2011 |
| Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing D Matías-Pérez, LA García-Montaño, M Cruz-Aguilar, IA García-Montalvo, ... Journal of Human Genetics 63 (11), 1169-1180, 2018 | 22 | 2018 |
| Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa OF Chacon-Camacho, S Jitskii, B Buentello-Volante, J Quevedo-Martinez, ... Gene 528 (2), 178-182, 2013 | 18 | 2013 |
| Klippel–Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes O Chacón-Camacho, L Camarillo-Blancarte, H Pelaez-González, ... European journal of medical genetics 55 (6-7), 414-417, 2012 | 18 | 2012 |
| Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature OF Chacon-Camacho, M Zenker, D Schanze, J Ledesma-Gil, JC Zenteno European Journal of Medical Genetics 60 (3), 190-194, 2017 | 16 | 2017 |
| Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase‐associated neurodegeneration H Morales‐Briceño, OF Chacón‐Camacho, EA Pérez‐González, ... Clinical genetics 87 (3), 259-265, 2015 | 15 | 2015 |
| Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin … J Cabral-Macias, LA Garcia-Montaño, M Pérezpeña-Díazconti, ... Molecular Vision 26, 345, 2020 | 14 | 2020 |
| Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease RE Piña-Aguilar, A Vera-Loaiza, OF Chacón-Camacho, JC Zenteno, ... Case reports in neurological medicine 2014, 2014 | 13 | 2014 |
| Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion O Chacón-Camacho, R Arce-Gonzalez, M Granillo-Alvarez, ... Ophthalmic Genetics 34 (4), 243-248, 2013 | 12 | 2013 |
| Nasopalpebral Lipoma‐Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case OF Chacon‐Camacho, MS Lopez‐Martinez, J Vázquez, ... American Journal of Medical Genetics Part A 161 (6), 1470-1474, 2013 | 12 | 2013 |
| Sclerocornea–Microphthalmia–Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature N Quiroz-Casian, OF Chacon-Camacho, T Barragan-Arevalo, ... Cornea 37 (9), 1178-1181, 2018 | 11 | 2018 |
| Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma PR Blackburn, OF Chacon‐Camacho, XR Ortiz‐González, M Reyes, ... American Journal of Medical Genetics Part A 176 (12), 2710-2719, 2018 | 10 | 2018 |
| Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome MC Astiazarán, M Cervantes-Sodi, E Rebolledo-Enríquez, ... Genetic Testing and Molecular Biomarkers 21 (12), 742-746, 2017 | 10 | 2017 |
| OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations OF Chacon-Camacho, L Camarillo-Blancarte, JC Zenteno Ophthalmic Genetics 32 (1), 24-30, 2011 | 10 | 2011 |
