Author

Juan F. Calderón

Universidad del DesarrolloORCID 0000-0003-2072-704XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Andrea DardisiD· 1 shared Andrés D. KleiniD· 1 shared Benjamín SzenfeldiD· 1 shared Bernabé I. BustosiD· 1 shared Boris Rebolledo‐JaramilloiD· 1 shared Caitlin J. BoweniD· 1 shared Camilo VillamániD· 1 shared Carlos F. HernándeziD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea DardisORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 30, 2026

CHANGER: A novel genetic reference from 902 unrelated Chilean exomes to enhance South American medical genetics and research.

Evelin Gonzalez, Camilo Villamán, Boris Rebolledo‐Jaramillo…·Eduardo Pérez‐Palma

The paper presents CHANGER, a Chilean exome reference dataset of 902 unrelated individuals, to improve genetic research and variant interpretation in South American populations.

1 citation

humanwhole-exome sequencing

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Genetic & Genomic MedicineFEBS LettersPeer-reviewedJun 12, 2025

Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family

Macarena Las Heras, Benjamín Szenfeld, Valeria Olguín…·Andrés D. Klein

The paper identifies genomic modifiers of neurological resilience in Niemann-Pick C disease by analyzing exomes from a family with diverse phenotypes and validates findings in yeast models.

3 citations

humanwhole-exome sequencing

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GeneticsJournal of Clinical InvestigationPeer-reviewedOct 22, 2019

Targetable cellular signaling events drive arterial rupture in knock-in mouse models of vascular Ehlers-Danlos Syndrome

Caitlin J. Bowen, Juan F. Calderón, Zachary Burger…·Harry C. Dietz

The paper identifies signaling pathway abnormalities in vEDS mouse models that contribute to arterial rupture.

82 citationstop 4%

mouseexperimental assay

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