Hugo Hernán Abarca-Barriga

10PUBLICATIONS
24CO-AUTHORS
Infant and child healthNeonatologyGene mappingOptical technologyMedical virology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (10)

|Apr 18, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.

Hugo Hernán Abarca-Barriga, Flor Vásquez Sotomayor, Renzo Punil-Luciano

|Mar 08, 2024
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.

Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri

|Dec 23, 2023
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.

Hugo H Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor

|Feb 13, 2023
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.

Ileana Cristea, Hugo Abarca, Anne E Christensen Mellgren

|Jul 30, 2021
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

María Luisa Guevara-Fujita, Francia Huaman-Dianderas, Daisy Obispo

|Aug 09, 2020
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature.

Hugo H Abarca-Barriga, Milana Trubnykova, Félix Chavesta-Velásquez

Pageof 2

Frequent Collaborators

2 joint publications

Milana Trubnykova

2 joint publications

Siddaramappa J Patil

2 joint publications

Paul Kruszka

1 joint publications

María Luisa Guevara-Fujita