Author

Ana Rosa Vieira Melo

Universidade dos AçoresORCID 0000-0002-1759-762XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Assay:DNA methylation· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Mafalda RaposoiD· 3 shared Manuela Caroline Ferreira LimaiD· 3 shared Ahmed M. SidkyiD· 2 shared Darren G. MoncktoniD· 2 shared Teresa Taylor KayiD· 2 shared Ana F. FerreiraiD· 1 shared Ana Filipa FerreiraiD· 1 shared Bart P.C. van de WarrenburgiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Mafalda RaposoORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 29, 2026

Allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease expansion carriers.

Ana Rosa Vieira Melo, Sandra Martins, Sara Pavão…·Mafalda Raposo

The paper investigates allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease carriers, finding lineage-dependent allelic imbalance and its potential impact on age at onset.

DOI 10.64898/2026.01.26.26344891

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintMar 13, 2024

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3

Ahmed M. Sidky, Ana Rosa Vieira Melo, Teresa Taylor Kay…·Darren G. Monckton

The paper quantifies age-related somatic expansion of the ATXN3 CAG repeat in blood and buccal cells of SCA3 patients, revealing strong age associations and genetic polymorphism effects.

DOI 10.1101/2024.03.13.24303081

humanDNA methylation

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GeneticsbioRxivPreprintApr 22, 2023

Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

Mafalda Raposo, Jeannette Hübener‐Schmid, Rebecca Tagett…·Manuela Caroline Ferreira Lima

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

1 citation

humanbulk RNA-seq

𝕏 PostBluesky