Author

Leonardo Onetto L.

ORCID 0000-0003-0532-826XUnclaimed 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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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Eugenio Aztiria· 1 shared Ezequiel RíasiD· 1 shared Gregorietti Franco· 1 shared Guillermo F. SpitzmauliD· 1 shared Leandro Dye· 1 shared Leonardo DionisioiD· 1 shared Roberto O. KeeganiD· 1 shared Stupniki Sofía· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Eugenio Aztiria

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 15, 2023

First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosis

Leonardo Dionisio, Stupniki Sofía, Eugenio Aztiria…·Guillermo F. Spitzmaul

The paper reports genetic variants in LQTS-associated genes from Argentinian patients, identifying a novel exon deletion in KCNQ1 and correlating these with clinical diagnoses.

DOI 10.1101/2023.02.15.23285915

humanwhole-exome sequencing

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