Candelo, E., Diaz-Ordoñez, L., Pacheco, R., Ruiz, E., & Pachajoa, H. (2021). Identification of Novel ADGRV1 and KCNC2 Variants Using Whole-Exome Sequencing in Two Colombian Patients with Usher and Encephalopathy Syndromes.

Ramírez-Montaño D, Candelo E, Pachajoa H. [New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient]. Andes Pediatrica : Revista Chilena de Pediatria. 2021 Oct;92(5):769-776. DOI: 10.32641/andespediatr.v92i5.3353. PMID: 35319586.

Johns AL, Luquetti DV, Heike CL, Drake AF, Roque MM, Hurtado-Villa P, Pachajoa H, Porras-Hurtado GL, Zarante I, Magee L. Parental reports of intervention services and prevalence of teasing in a multinational craniofacial microsomia pediatric study. Journal of Craniofacial Surgery. 2021 Oct 1;32(8):2687-91.

Pachajoa, H., Acosta, M. A., Alméciga‐Díaz, C. J., Ariza, Y., Diaz‐Ordoñez, L., Caicedo‐Herrera, G., ... & Candelo, E. (2021, September). Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 187, No. 3, pp. 388-395). Hoboken, USA: John Wiley & Sons, Inc..

Andrew T Timberlake, Casey Griffin, Carrie L Heike, Anne V Hing, Michael L Cunningham, David Chitayat, Mark R Davis, Soghra J Doust, Amelia F Drake, Milagros M Duenas-Roque, Jack Goldblatt, Jonas A Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G Laing, Leanne Magee, Sureni V Mullegama, Harry Pachajoa, Gloria L Porras-Hurtado, Rhonda E Schnur, Jennie Slee, Steven L Singer, David A Staffenberg, Andrew E Timms, Cheryl A Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V Luquetti. (2021). Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nature communications, 12(1), 1-11.

Lapunzina, P., Tenorio‐Castaño, J., Nevado, J., Campos Barros, A., Pachajoa, H., Ruiz‐Pérez, V. L., & Castilla, E. E. (2021, June). The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 187, No. 2, pp. 186-191). Hoboken, USA: John Wiley & Sons, Inc..

Pachajoa, H., Heyne, T., Candelo, E., Purizaca‐Rosillo, N., Correa‐Trigoso, D. E., Gayoso, G., & Rodriguez, C. A. (2021, June). Genetic and congenital disorders in pre‐Hispanic Moche pottery. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 187, No. 2, pp. 269-277). Hoboken, USA: John Wiley & Sons, Inc..

Angulo, M., Ramirez-Montaño, D., Torres-Canchala, L., García, X., Lemus, R., Aristizabal, A. M., ... & Pachajoa, H. (2021). Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and without Catch-up Growth. Journal of Clinical Research in Pediatric Endocrinology, 13(2), 136.

Pachajoa, Harry, Takeuchi Tan, Yuri, Zea, Andres, Candelo, Estephania, Valencia, Valeria, Contreras, Juan, & Arango, Akemi. (2021). Neurozika, de las ciencias básicas a la práctica clínica. Revisión de la literatura. Acta Neurológica Colombiana, 37(1, Suppl. 1), 27-34. Epub May 20, 2021.https://doi.org/10.22379/24224022321.

Caicedo-Herrera, G., Candelo, E., Olaya, M., Pérez, P., Medina, D., & Pachajoa, H. (2021). Trasplante de médula ósea exitoso en un caso de linfohistiocitosis hemofagocítica familiar tipo 3. Andes pediatrica, 92(2), 269-273.

Candelo, E., Sanz, A. M., Ramirez-Montaño, D., Diaz-Ordoñez, L., Granados, A. M., Rosso, F., ... & Pachajoa, H. (2021). A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation. Frontiers in Genetics, 12, 530028.

Forero-Delgadillo, J. M., Ochoa, V., Duque, N., Restrepo, J. M., Londoño, H., Nastasi-Catanese, J. A., & Pachajoa, H. (2021). New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report. Clinical Medicine Insights: Pediatrics, 15, 1179556521992354.

López-Quintero W, Cleves D, Gomez-Vasco JD, Pérez P, Patiño J, Medina-Valencia D, Pachajoa H, Torres-Canchala L, Vidal A, Olaya M. Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia. World Allergy Organization Journal. 2021 Mar 1;14(3):100527.

Ortiz-Quiroga, D., Candelo, E., Ariza-Araujo, Y., & Pachajoa, H. (2021). Pandemias ficticias. Contagio: ficción o una nueva realidad. Revista de Medicina y Cine, 17(1), 77-84.

McTiernan, N., Gill, H., Prada, C. E., Pachajoa, H., Lores, J., & Arnesen, T. (2021). NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. European Journal of Human Genetics, 29(2), 280-288.

Manuela Olaya, Laura Torres-Canchala, Brenda Coll-Tello, Daniela Cleves, Paola Pérez, Jaime Patiño, Diego Medina-Valencia, Harry Pachajoa. ASOCIACIÓN DE SÍNDROME PAPILLON-LÉFÈVRE CON RABDOMIÓLISIS E HIPOGAMMAGLOBULINEMIA: DIAGNÓSTICO CLÍNICO Y MOLECULAR EN UN PACIENTE LATINOAMERICANO. Archivos de Alergia e Inmunología Clínica, 2021.