| Novel ATP7A gene mutation in a patient with Menkes disease G Caicedo-Herrera, E Candelo, J Pinilla, A Vidal, S Cruz, HM Pachajoa The application of clinical genetics, 151-155, 2018 | 19 | 2018 |
| Syndromic intellectual disability caused by a novel truncating variant in AHDC1: a case report L Díaz-Ordoñez, D Ramirez-Montaño, E Candelo, S Cruz, H Pachajoa Iranian Journal of Medical Sciences 44 (3), 257, 2019 | 14 | 2019 |
| DeSanto-Shinawi syndrome: first case in South America S Vanegas, D Ramirez-Montaño, E Candelo, M Shinawi, H Pachajoa Molecular Syndromology 9 (3), 154-158, 2018 | 12 | 2018 |
| Microcephaly in Colombia before the Zika outbreak: A systematic literature review E Candelo, G Caicedo, MM Feinstein, H Pachajoa Biomedica 38, 127-134, 2018 | 11 | 2018 |
| Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia H Pachajoa, MA Acosta, CJ Alméciga‐Díaz, Y Ariza, L Diaz‐Ordoñez, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 9 | 2021 |
| Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: report of two cases in Colombia E Candelo, L Cochard, G Caicedo-Herrera, AM Granados, JF Gomez, ... Intractable & Rare Diseases Research 8 (3), 187-193, 2019 | 9 | 2019 |
| A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome LJ Ríos-Serna, L Díaz-Ordoñez, E Candelo, H Pachajoa The Application of Clinical Genetics, 157-162, 2018 | 8 | 2018 |
| Laryngotracheal stenoses post-acute respiratory distress syndrome due to COVID-19: clinical presentation, histopathological findings and management. A series of 12 cases LF Tintinago, W Victoria, J Escobar Stein, LF Gonzales, MI Fernandez, ... Indian Journal of Otolaryngology and Head & Neck Surgery 74 (Suppl 2), 3262-3267, 2022 | 7 | 2022 |
| Genetic and congenital disorders in pre‐Hispanic Moche pottery H Pachajoa, T Heyne, E Candelo, N Purizaca‐Rosillo, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 7 | 2021 |
| Systemic bevacizumab for recurrent respiratory papillomatosis: a scoping review from 2009 to 2022 L Torres-Canchala, D Cleves-Luna, O Arias-Valderrama, E Candelo, ... Children 10 (1), 54, 2022 | 6 | 2022 |
| First Case Report of Prader–Willi-Like Syndrome in Colombia E Candelo, MM Feinstein, D Ramirez-Montaño, JF Gomez, H Pachajoa Frontiers in Genetics 9, 345489, 2018 | 6 | 2018 |
| Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole L Díaz-Ordóñez, D Ramírez-Montaño, E Candelo, C González-Restrepo, ... Pharmacogenomics and Personalized Medicine, 509-520, 2021 | 5 | 2021 |
| Hematological findings in lysosomal storage disorders: a perspective from the medical laboratory AF Leal, WG Nieto, E Candelo, H Pachajoa, CJ Alméciga-Díaz EJIFCC 33 (1), 28, 2022 | 4 | 2022 |
| First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features JA Olave-Rodriguez, FJ Bonilla-Escobar, E Candelo, LX Rodriguez-Rojas The Application of Clinical Genetics, 473-479, 2021 | 4 | 2021 |
| A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report E Aristizábal, L Diaz-Ordóñez, E Candelo, H Pachajoa The Application of Clinical Genetics, 409-416, 2021 | 4 | 2021 |
| A possible association between Zika virus infection and CDK5RAP2 mutation E Candelo, AM Sanz, D Ramirez-Montaño, L Diaz-Ordoñez, ... Frontiers in Genetics 12, 530028, 2021 | 3 | 2021 |
| First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities E Candelo, G Caicedo, F Rosso, A Ballesteros, J Orrego, L Escobar, ... The Application of Clinical Genetics, 141-150, 2019 | 3 | 2019 |
| Microduplication of Xp22. 31 and MECP2 pathogenic variant in a girl with rett syndrome: A case report E Candelo, D Ramirez-Montaño, H Pachajoa Iranian Journal of Medical Sciences 44 (4), 347, 2019 | 3 | 2019 |
| Functional outcomes following delayed laryngeal reinnervation of patients with vagal paralysis after paraganglioma and schwannoma surgery E Candelo, D Borsetto, R Obholzer, P Clarke, M MatBaki, M Birchall Journal of Voice 37 (4), 610-615, 2023 | 2 | 2023 |
| Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population LM Echeverry-Quiceno, E Candelo, E Gómez, P Solís, D Ramírez, D Ortiz, ... Scientific Reports 13 (1), 6869, 2023 | 2 | 2023 |
Harry PachajoaUniversidad Icesi, Fundación Valle del LiliVerified email at icesi.edu.co
