Author

Marina Luz Ingravidi

Universidad de Buenos AiresORCID 0009-0000-1983-2630Unclaimed 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 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aldana Claps· 1 shared Cecilia S. FernándeziD· 1 shared Franco Daniel FernándeziD· 1 shared Jorge E. KolomenskiiD· 1 shared Julieta Eva LaisecaiD· 1 shared Laura KamenetzkyiD· 1 shared Liliana DaíniD· 1 shared Marisol DeleaiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aldana Claps

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedJul 10, 2025

HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING

Aldana Claps, Jorge E. Kolomenski, Franco Daniel Fernández…·Liliana Daín

This study uses Oxford Nanopore long-read sequencing to characterize RCCX rearrangements in a Latin American 21-hydroxylase deficiency cohort, identifying new genetic variants and reclassifying a previously overlooked case.

3 citations

humanlong-read sequencing

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