Formación académica
Medicina
Pontificia Universidad Javeriana Cali
2018
Especialización en Genética Médica
Universidad Icesi
2022
Caracterización clínica y molecular de pacientes con RASopatías en una población colombiana
Perfil
Experiencia profesional
- Pontificia Universidad Javeriana Cali
Docente planta - Instructor
2023 - actualidad
- Clínica Imbanaco
Médica genetista
2022 - actualidad
- Pontificia Universidad Javeriana Cali
Docente hora cátedra
2022 - 2023
Áreas de interés
Áreas de interés
- Genética médica, genómica, genética cardiovascular, RASopatías
Investigación
- Caracterización de pacientes diagnosticados con cardiomiopatías en la Clínica Imbanaco junio 2018 - junio 2023
Publicaciones
- Aristizabal AM, Guzmán-Serrano CA, Lizcano MI, Mosquera W, Lores J, Pachajoa H, Cely C. FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association. Arq Bras Cardiol. 2024 Jun 24;121(5):e20230790. Portuguese, English. doi: 10.36660/abc.20230790.
- Portilla-Rojas E, Pineda-Sanabria P, Ramírez L, Cuevas MI, Lores J, Sarmiento K, Zarante I. Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia. J Pediatr Orthop B. 2024 Apr 25. doi: 10.1097/BPB.0000000000001184.
- Portilla-Rojas E, Ramírez L, Moreno C, Lores J, Sarmiento K, Zarante I. A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020. Birth Defects Res. 2024 Feb;116(2):e2312. doi: 10.1002/bdr2.2312. PMID: 38343155.
- Lopez-Ponce de León JD, Estacio M, Giraldo N, et al. Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study. J. Clin. Med. 2023, 12(17), 5682. DOI: 10.3390/jcm12175682
- Lores J, Pachajoa H, Ochoa V, Restrepo JM. Importancia de la genética en la nefrología pediátrica. Andes pediatr. 2023;94(4):542-553 DOI: 10.32641/andespediatr.v94i4.4498
- Pachajoa H, Gomez-Pineda E, Giraldo-Ocampo S, Lores J. Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies. Pharmgenomics Pers Med. 2022;15:913-918. doi:10.2147/PGPM.S380908
- Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H. Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1. Pharmgenomics Pers Med. 2022;15:873-878. doi:10.2147/PGPM.S380796
- Lores J, Prada CE, Ramírez-Montaño D, Nastasi-Catanese JA, Pachajoa H. Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia. Am J Med Genet C Semin Med Genet. 2020;184(4):1042-1051. doi:10.1002/ajmg.c.31869
- McTiernan N, Gill H, Prada CE, Pachajoa H, Lores J; CAUSES study, Arnesen T. NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. Eur J Hum Genet. 2020 Sep 24. doi: 10.1038/s41431-020-00728-2.
- Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Ophthalmic genetics in South America. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832.
- Pinilla-Monsalve GD, Lores J, Pachajoa H, et al. A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis. Appl Clin Genet. 2020;13:63-69. Published 2020 Mar 26. doi:10.2147/TACG.S243148
- Grizales CL, González LM, Castrillon MA, Sua LF, Lores J, Aguirre M, Fernández-Trujillo L. Plastic bronchitis: A case report. Respir Med Case Rep. 2019;28:100876. doi:10.1016/j.rmcr.2019.100876
- Bejarano A, Bautista DF, Sua LF, Pérez B, Lores J, Aguirre M, Fernández-Trujillo L. Acute pneumonitis and diffuse alveolar hemorrhage secondary to silicone embolism: A case report. Medicine (Baltimore). 2020 Jun 12;99(24):e20578. doi: 10.1097/MD.0000000000020578.
- Fernández-Trujillo L, Tapia L, Vallejo M, Aguirre M, Lores J, Sua LF. Histological Transformation to Small Cell Carcinoma of an Adenosquamous Carcinoma of the Lung With Epidermal Growth Factor Receptor Mutation in Exons 20 and 21 After Treatment With Erlotinib: Case Report. Clin Med Insights Circ Respir Pulm Med. 2019 Sep 3;13:1179548419872993. doi: 10.1177/1179548419872993.
- Arcos C, Díaz JD, Canencio K, Rodríguez D, Viveros C, Vega J, Lores J, Sinisterra G, Sepúlveda W, Moreno F. In Vitro Description of Macroscopic Changes of Dental Amalgam Discs Subject to High Temperatures to Forensic Purposes. J Forensic Odontostomatol. 2015 Jul 1;33(1):8-18.