Author

Jorge Sequeiros

Universidade do PortoORCID 0000-0002-9846-1037Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Mafalda RaposoiD· 2 shared Manuela Caroline Ferreira LimaiD· 2 shared Ahmed M. SidkyiD· 1 shared Ana Filipa FerreiraiD· 1 shared Ana Rosa Vieira MeloiD· 1 shared Calwing LiaoiD· 1 shared Cynthia V. Bourassa· 1 shared Darren G. MoncktoniD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mafalda RaposoORCID

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2 papers

Recent·Most cited

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

Ana Rosa Vieira Melo, Sandra Martins, Sara Pavão, Luís Teves, Ana Filipa Ferreira, Ahmed M. Sidky, Jorge Sequeiros, Darren G. Monckton, M. João Lima, 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.

medRxiv · Jan 29, 2026 · PreprintGenetic & Genomic Medicine

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Caroline Ferreira Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, , Guy Armand Rouleau

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.

Aging · Mar 23, 2020Peer-reviewedGenetics