Author

Gregorietti Franco

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Guillermo F. SpitzmauliD· 1 shared Leandro Dye· 1 shared Leonardo DionisioiD· 1 shared Leonardo Onetto L.iD· 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

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

Leonardo Dionisio, Stupniki Sofía, Eugenio Aztiria, Ezequiel Rías, Leandro Dye, Leonardo Onetto L., Gregorietti Franco, Roberto O. Keegan, 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.

medRxiv · Feb 15, 2023 · PreprintGenetic & Genomic Medicine