Author

Maria Jesús Zavala

Hospital BaseORCID 0000-0002-8569-1941Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Boris Rebolledo‐JaramilloiD· 1 shared Daniela BöhmeiD· 1 shared Fernanda EspinosaiD· 1 shared Gabriela M. RepettoiD· 1 shared Gabriela Moreno YatesiD· 1 shared Gonzalo EncinaiD· 1 shared Luz MartiniD· 1 shared M. Cecilia PoliiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Boris Rebolledo‐JaramilloORCID

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1 paper

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