Harry Pachajoa

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 29

Top Venues

The application of clinical genetics

Biomedica : revista del Instituto Nacional de Salud

Pharmacogenomics and personalized medicine

Arquivos brasileiros de cardiologia

Universidad ICESI Facultad de Ciencias de la Salud

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidad ICESI Facultad de Ciencias de la Salud Jan 05 2011

Colombia

Chief :: Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras

Publications

Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations. The application of clinical genetics 17 (2024)
Sebastian Ciro Acosta, Lorena Díaz-Ordóñez, Juan David Gutierrez-Medina, Yisther Katherine Silva-Cuero, Luis Guillermo Arango-Vélez, Andrés Octavio García-Trujillo, Harry Pachajoa
Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations. The application of clinical genetics 17 (2024)
Rafael Adrián Pacheco-Orozco, Jessica María Forero-Delgadillo, Vanessa Ochoa, Juan Sebastián Toro, Harry Pachajoa, Jaime Manuel Restrepo
Genetic and radiological aspects of pediatric renal cystic disease: A case series Biomedica : revista del Instituto Nacional de Salud 44 (Sp. 1) (2024)
Ana M. Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, Walter Mosquera, Juliana Lores, Harry Pachajoa, Cesar Cely
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association. Arquivos brasileiros de cardiologia 121 (5) (2024)
Rafael Adrián Pacheco-Orozco, Jessica María Forero-Delgadillo, Vanessa Ochoa, Juan Sebastián Toro, Harry Pachajoa, Jaime Manuel Restrepo
Genetic and radiological aspects of pediatric renal cystic disease: A case series Biomedica : revista del Instituto Nacional de Salud 44 (Sp. 1) (2024)
Ana M. Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, Walter Mosquera, Juliana Lores, Harry Pachajoa, Cesar Cely
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association. Arquivos brasileiros de cardiologia 121 (5) (2024)
Rafael Adrián Pacheco-Orozco, Jessica María Forero-Delgadillo, Vanessa Ochoa, Juan Sebastián Toro, Harry Pachajoa, Jaime Manuel Restrepo
Genetic and radiological aspects of pediatric renal cystic disease: A case series Biomedica : revista del Instituto Nacional de Salud 44 (Sp. 1) (2024)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, José Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas. The application of clinical genetics 16 (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noemi Dahan-Oliel, Jon Robert Davids, Maud De Dieuleveult, Vinicius de Souza, Bert B A de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander J M Dingemans, Bruno Donadille, Michael Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius O B Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike A A Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Sebastian Giraldo-Ocampo, Harry Pachajoa
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report. BMC pediatrics 22 (1) (2022)
Sebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity. The application of clinical genetics 15 (2022)
Harry Pachajoa, Sebastian Giraldo-Ocampo
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report. Orthopedic research and reviews 14 (2022)
Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, Juliana Lores
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies. Pharmacogenomics and personalized medicine 15 (2022)
Lorena Díaz-Ordóñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga-Gil, Lenka Murgašová, Martin Magner, Harry Pachajoa
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review. JMIR research protocols 11 (6) (2022)
Lina Perafan-Valdes, Sebastian Giraldo-Ocampo, Juliana Lores, Harry Pachajoa
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 . Pharmacogenomics and personalized medicine 15 (2022)
Estephania Candelo, Maria Alejandra Estrada-Mesa, Adriana Jaramillo-Echeverry, Carlos Humberto Martinez-Cajas, Julio Cesar Osorio, Harry Pachajoa
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report. The application of clinical genetics 14 (2021)
Harry Pachajoa, Thomas F Heyne, Estephania Candelo, Nelson Purizaca-Rosillo, Denis E Correa-Trigoso, Guillermo Gayoso, Carlos Armando Rodriguez
Genetic and congenital disorders in pre-Hispanic Moche pottery. American journal of medical genetics. Part C, Seminars in medical genetics 187 (2) (2021)
Erica Aristizábal, Lorena Díaz-Ordóñez, Estephania Candelo, Harry Pachajoa
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report. The application of clinical genetics 14 (2021)
Lorena Díaz-Ordóñez, Diana Ramírez-Montaño, Estephania Candelo, Carolina González-Restrepo, Sebastian Alejandro Silva Peña, Carlos Arturo Rojas, Mario Sepulveda Copete, Hector Raul Echavarria, Harry Pachajoa
Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole. Pharmacogenomics and personalized medicine 14 (2021)
Laura Alejandra Torres Canchala, Daniela Castaño, Nathalia Silva, Ana María Gómez, Alejandro Victoria, Harry Pachajoa
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report. The application of clinical genetics 13 (2020)
Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese, Harry Pachajoa
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country. The application of clinical genetics 13 (2020)
Harry Pachajoa, Lina Perafan, Isabella Ramos, Álvaro J Escobar
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 (2020)
Gabriel David Pinilla-Monsalve, Juliana Lores, Harry Pachajoa, Juan D López-Ponce de León, Alejandro López, Lisa X Rodríguez-Rojas, José Antonio Nastasi-Catanese
A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis. The application of clinical genetics 13 (2020)
Harry Pachajoa, Angelica Claros-Hulbert, Ximena García-Quintero, Lina Perafan-Valdes, Andres Ramirez, Andrés Felipe Zea-Vera
Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization. The application of clinical genetics 13 (2020)
Nina McTiernan, Harinder Gill, Carlos E Prada, Harry Pachajoa, Juliana Lores, null null, Thomas Arnesen
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. European journal of human genetics : EJHG 29 (2) (2020)
Mario Jr Angulo, Diana Ramírez-Montaño, Laura Alejandra Torres Canchala, Ximena Garcia Quintero, Rodrigo Lemus, Ana M. Aristizabal, Danielle Floyd-Aristizábal, Diana M. Dávalos, Lorena Díaz-Ordóñez, Harry Pachajoa
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) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Harry Pachajoa