Author

Ana Carolina Pinto da Cruz

Pontifícia Universidade Católica do ParanáORCID 0000-0001-9688-5314Unclaimed 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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Research Focus:benchmarking· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adriano FerrasaiD· 1 shared Isabeli do Nascimento MassoniD· 1 shared Janaína Sena de SouzaiD· 1 shared Kelren S RodriguesiD· 1 shared Roberto H. HeraiiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

5 top collaborators · 10 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adriano FerrasaORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 22, 2025

Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X Syndrome

Ana Carolina Pinto da Cruz, Adriano Ferrasa, Isabeli do Nascimento Masson…·Roberto H. Herai

The paper identifies non-CGG trinucleotide repeat mutations in the FMR1 gene associated with Fragile X Syndrome phenotypes, suggesting broader genetic screening is needed beyond CGG repeats.

DOI 10.1101/2025.10.22.25338597

humanstatistical model

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