Hugo Hernán Abarca Barriga (Hugo H Abarca Barriga, Hugo H Abarca-Barriga, Hugo Hernán Abarca-Barriga, Hugo Abarca)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 16

Top Venues

BMC pediatrics

Genes

American journal of medical genetics. Part A

Journal of pediatric genetics

Universidad Científica del Sur

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

Affiliation History

Universidad Científica del Sur

Peru

Profesor :: Medicina Humana

Instituto Nacional de Salud del Niño

Peru

Médico-Asistente :: Servicio de Genética & EIM

Universidad Ricardo Palma Mar 12 2017

Peru

Profesor de Embriología y Genética :: Facultad de Medicina

Universidad Científica del Sur

Peru

Profesor de Genética Aplicada :: Carrera de Odontología y Estomatología- Post Grado Odontopediatría

Instituto Nacional de Salud del Niño

Peru

Jefe de Servicio :: Servicio de Genética & Errrores Innatos del Metabolismo

Instituto Nacional de Salud del Niño

Peru

Médico Asistente :: Servicio de Genética & Errores Innatos del Metabolismo

Centro de Salud San Vicente de Cañete

Peru

Médico-Asistente

Hospital Nacional Guillermo Almenara Irigoyen

Peru

Residente

Puesto de Salud de Rondocan

Peru

Jefe del Puesto de Salud

Publications

Hugo Hernán Abarca Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. BMC pediatrics 24 (1) (2024)
Hugo Hernán Abarca Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. BMC pediatrics 24 (1) (2024)
Hugo Hernán Abarca Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. BMC pediatrics 24 (1) (2024)
Hugo Hernán Abarca Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. BMC pediatrics 24 (1) (2024)
Hugo Hernán Abarca Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome. BMC pediatrics 24 (1) (2024)
Hugo Hernán Abarca Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. Genes 14 (12) (2023)
Hugo Hernán Abarca Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. Genes 14 (12) (2023)
Hugo Hernán Abarca Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. Genes 14 (12) (2023)
Hugo Hernán Abarca Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis. Genes 14 (12) (2023)
Ileana Cristea, Hugo Hernán Abarca Barriga, Anne E Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J M Peters, Gunnar Houge, Raoul C M Hennekam, Eyvind Rødahl, Ove Bruland, Cecilie Bredrup
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia. FEBS letters (2023)
María Luisa Guevara-Fujita, Francia Huaman-Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas-Málaga, Alejandro Estrada-Cuzcano, Milana Trubnykova, Mario Cornejo-Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas-Roque, Ana Protzel, Carlos Castañeda, Hugo Hernán Abarca Barriga, Luis Celis, Jorge La Serna-Infantes, Ricardo Fujita
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB. Molecular genetics & genomic medicine 9 (9) (2021)
Hugo Hernán Abarca Barriga, Milana Trubnykova, Félix Chavesta-Velásquez, Claudia Fiorella Barletta-Carrillo, Marco Ordoñez-Linares, Andrea Rondón-Abuhadba
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature. Journal of pediatric genetics 9 (4) (2020)
Paul S Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, Eloise J Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho-Ming Luk, Ivan F M Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta Mohan Girisha, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Monisha S Kisling, Carlos R Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O El Ruby, Engy A Ashaat, Siddaramappa Jagdish Patil, Leah Dowsett, Alison Eaton, A Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H Y Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A Kozel, Mieke M van Haelst, Roger E Stevenson, Marshall Summar, A Adebowale Adeyemo, Colleen A Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke
Williams-Beuren syndrome in diverse populations. American journal of medical genetics. Part A 176 (5) (2019)
Flor Vásquez Sotomayor, Hugo Hernán Abarca Barriga
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis. Journal of pediatric genetics 8 (3) (2019)
Hugo Hernán Abarca Barriga, Nathaly Caballero, Milana Trubnykova, María Del Carmen Castro-Mujica, Jorge E La Serna-Infantes, Flor Vásquez, Raoul C Hennekam
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome. American journal of medical genetics. Part A 176 (11) (2018)
Paul S Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, Gary T K Mok, Gordon K C Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N Ekure, Ogochukwu J Sokunbi, Nnenna Kalu, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Lisa M Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M Girisha, Siddaramappa Jagdish Patil, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Steven A Skinner, Eloise J Prijoles, Eben Badoe, Ashleigh D Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S Kisling, Carlos R Ferreira, Leon Mutesa, Andre Megarbane, Antonie D Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H Y Chung, Roger E Stevenson, Marshall Summar, Kausik Mandal, Shubha R Phadke, María G Obregon, Marius G Linguraru, Maximilian Muenke
Noonan syndrome in diverse populations. American journal of medical genetics. Part A 173 (9) (2017)

Hugo Hernán Abarca Barriga.css-eqlu8i{font-size:small;padding-left:4px;} (Hugo H Abarca Barriga, Hugo H Abarca-Barriga, Hugo Hernán Abarca-Barriga, Hugo Abarca)

Publication Activity (10 Years)

Top Topics

Top Venues

Hugo Hernán Abarca Barriga (Hugo H Abarca Barriga, Hugo H Abarca-Barriga, Hugo Hernán Abarca-Barriga, Hugo Abarca)