Author

Carmen Llames Massini

Consejo Nacional de Investigaciones Científicas y TécnicasORCID 0009-0007-3546-6168Unclaimed 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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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

Florencia GilibertoiD· 1 shared Gabriel Capellino· 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

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Florencia GilibertoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 3, 2024

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

Florencia Giliberto, Paula Inés Buonfiglio, Gabriel Capellino…·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.

DOI 10.1101/2024.10.03.24314698

humanDNA methylation

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