Author

Gabriel Capellino

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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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carmen Llames MassiniiD· 1 shared Florencia GilibertoiD· 1 shared Leonela N. LuceiD· 1 shared Micaela CarcioneiD· 1 shared Paula Inés BuonfiglioiD· 1 shared Viviana DalamóniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Carmen Llames MassiniORCID

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1 paper

Recent·Most cited

From Past to Present: Pompe Disease, Pseudodeficiency Alleles, and Diagnostic Challenges

Florencia Giliberto, Paula Inés Buonfiglio, Gabriel Capellino, Carmen Llames Massini, Viviana Dalamón, Leonela N. Luce, Micaela Carcione

The paper investigates a pseudodeficiency allele in Pompe disease, clarifies its benign classification, and highlights the importance of accurate variant interpretation in genetic diagnosis.

medRxiv · Oct 3, 2024 · PreprintGenetic & Genomic Medicine