Lores, J., Prada, C. E., Ramírez‐Montaño, D., Nastasi‐Catanese, J. A., & Pachajoa, H. (2020, December). Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 184, No. 4, pp. 1042-1051). Hoboken, USA: John Wiley & Sons, Inc..

Beltran, E., Garcia-Robledo, J. E., Rodríguez-Rojas, L. X., Rengifo, M., Perez, B., Pachajoa, H., & Zambrano, A. R. (2020). Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature. Journal of Medical Case Reports, 14(1), 1-6.

Carlos E Duran, Alejandro Ramírez, Juan G Posada, Johanna Schweineberg, Liliana Mesa, Harry Pachajoa, Mayra Estacio, Eliana Manzi, Vanessa Aros, Lorena Díaz, Victor H Garcia. Corrigendum to “Prevalence of APOL1 Risk Variants in Afro-Descendant Patients with Chronic Kidney Disease in a Latin American Country”. International Journal of Nephrology, 2020.

Álvaro J Ruiz, Luisa Fernanda Patiño, Kelly Amaya, Juan Esteban Gómez, Felipe Ordóñez, Samuel Paternina, Misael Mercado, Harry Pachajoa, Rafael Campo, Gustavo Giraldo, Ravagly Jiménez, Nohora Zuluaga, Jeniffer Monroy, Julián Gil-Forero, Audrey Matallana, Carolina Rivera, Mauricio Coll, William A Peña-Vargas, Octavio Manjarrez, Juan Martín Toro, Álvaro Barrera, Diego Hoyos, Harold García. Hipercolesterolemia familiar: serie de 36 casos con fenotipo de hipercolesterolemia familiar homocigótica. Revista Colombiana de Cardiología, 27(6), 498-507.

Manuela Olaya, Alexis Franco, Mauricio Chaparro, Marcela Estupiñan, David Aristizabal, Natalia Builes-Restrepo, José L Franco, Andrés F Zea-Vera, Mayra Estacio, Eliana Manzi, Estefania Beltran, Paola Perez, Jaime Patiño, Harry Pachajoa, Diego Medina-Valencia. (2020). Hematopoietic stem cell transplantation in children with inborn errors of immunity: a multi-center experience in Colombia. Journal of Clinical Immunology, 40(8), 1116-1123.

Luquetti, D. V., Heike, C. L., Zarante, I., Timms, A. E., Gustafson, J., Pachajoa, H., ... & Hurtado‐Villa, P. (2020). MYT1 role in the microtia‐craniofacial microsomia spectrum. Molecular Genetics & Genomic Medicine, 8(10), e1401.

Robert B. Hufnagel, Michael A. Walter, Gavin Arno, Introduction to the special issue on , American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 10.1002/ajmg.c.31841, 184, 3, (535-537), (2020).

Candelo, E., Caicedo, G., & Pachajoa, H. (2020). Ampliando el fenotipo del síndrome FOXG1. Neurología (Barc., Ed. impr.), 35(3), 207-211.

Pachajoa, H., Ariza, Y., & Ortiz-Quiroga, D. (2020). Disability experience of a women with Morquio syndrome type IVA. Molecular Genetics and Metabolism, 129(2), S125.

Torres-Canchala, L., Castaño, D., Silva, N., Gómez, A. M., Victoria, A., & Pachajoa, H. (2020). Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report. The application of clinical genetics, 13, 147–150.

Pachajoa, H., Perafan, L., Ramos, I., & Escobar, Á. J. (2020). Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association. International journal of women's health, 12, 675–679.

Palma, M., Lores, J., Stevenson, D., Bernstein, J., Calderwood, L., Pachajoa, H., & Prada, C. (2020, January). RAF1 DUPLICATIONS. In JOURNAL OF INVESTIGATIVE MEDICINE (Vol. 68, pp. A115-A116). BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: BMJ PUBLISHING GROUP.

Pachajoa, H., Claros-Hulbert, A., García-Quintero, X., Perafan, L., Ramirez, A., & Zea-Vera, A. F. (2020). Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization. The application of clinical genetics, 13, 159–164.

Daich Varela, Malena; Moya Behrens, René; Schlottmann, Patricio G.; Hufnagel, Robert B.; Arberas, Claudia; Fernández, Federico M.; Inga, M. Eugenia; Lores, Juliana; Pachajoa, Harry; Prada, Carlos E.; Ferraz Sallum, Juliana M. Ophthalmic genetics in South America Malena. Am J Med Genet. 2020;184C:753–761.

Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA. A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis. Appl Clin Genet. 2020 Mar 26;13:63-69.

Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H. PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country. Appl Clin Genet. 2020 Feb 13;13:57-62.