Author

Cecilia S. Fernández

ORCID 0000-0003-1102-0237Unclaimed 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 Franco Daniel FernándeziD· 1 shared Jorge E. KolomenskiiD· 1 shared Julieta Eva LaisecaiD· 1 shared Laura KamenetzkyiD· 1 shared Liliana DaíniD· 1 shared Marina Luz IngravidiiD· 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

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, Natalia Macchiaroli, Marina Luz Ingravidi, Marisol Delea, Cecilia S. Fernández, Tania Castro, Julieta Eva Laiseca, Laura Kamenetzky, Melisa Taboas, 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.

Scientific Reports · Jul 10, 2025Peer-reviewedGenetic & Genomic Medicine