Author

Sérgio Bernardo de Sousa

Unidade Local de Saúde de CoimbraORCID 0000-0003-3921-1334Unclaimed 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 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmet YeşilyurtiD· 1 shared Alison M. MuiriD· 1 shared Anastasia M. JackoiD· 1 shared Anne Michele SlavotinekiD· 1 shared Belinda Campos‐XavieriD· 1 shared Benjamin CognéiD· 1 shared Benjamin Dauriat· 1 shared Bertrand IsidoriD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineMolecular PsychiatryPeer-reviewedSep 16, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

DOI 10.1038/s41380-026-03877-w

humanbulk RNA-seq

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GeneticsNature CommunicationsPeer-reviewedFeb 5, 2025

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg…·Quasar Saleem Padiath

The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.

9 citations

humanDNA methylation

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