Author

Gonzalo Encina

Clínica AlemanaORCID 0000-0002-7367-5485Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:imaging· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Boris Rebolledo‐JaramilloiD· 2 shared Gabriela M. RepettoiD· 2 shared Adrian Ocampo· 1 shared Analía Cuiza· 1 shared Andrea Calleja· 1 shared Carlos F. HernándeziD· 1 shared Carlos Juri CiD· 1 shared Claudia Ornstein· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Boris Rebolledo‐JaramilloORCID

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2 papers

Recent·Most cited

Features Influencing Diagnostic Yield of Exome Sequencing in the DECIPHERD Study in Chile

Gabriela Moreno Yates, Boris Rebolledo‐Jaramillo, Daniela Böhme, Gonzalo Encina, Luz Martin, Maria Jesús Zavala, Fernanda Espinosa, María Trinidad Hasbún, M. Cecilia Poli, Víctor Faùndes, Gabriela M. Repetto

This study evaluates factors influencing diagnostic yield of exome sequencing in Chilean patients with rare diseases, finding that NDD and MCA increase diagnostic yield while prior gene panel testing decreases it.

medRxiv · Feb 22, 2026 · PreprintGenetic & Genomic Medicine

Prodromal manifestations of Parkinson's disease in adults with 22q11.2 microdeletion syndrome

Carlos Juri C, Pedro Chaná‐Cuevas, Vasko Kramer, Rosemarie Fritsch M, Claudia Ornstein, Analía Cuiza, Carlos F. Hernández, Katiuska Villanueva, T. Córdova, Jorge Mauro, Adrian Ocampo, Boris Rebolledo‐Jaramillo, Gonzalo Encina, Andrea Calleja, Javiera Dinator, , Gabriela M. Repetto

This study identifies prodromal Parkinson's disease features in adults with 22q11.2 microdeletion syndrome, showing signs like hyposmia and dysautonomia, with some evidence of dopaminergic signaling changes.

medRxiv · May 18, 2022 · PreprintGenetic & Genomic Medicine