Author

Beatriz Gomes-Silva

University of LisbonORCID 0000-0002-0193-4273Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André Ventura-GomesiD· 1 shared Andrew R. WebsteriD· 1 shared Anthony Kevin Webb· 1 shared Charlie F RowlandsiD· 1 shared Christopher Campbell· 1 shared Christopher O’CallaghaniD· 1 shared Claire L. Hardcastle· 1 shared Claudia CrociniiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperDevelopmental Biology

André Ventura-GomesORCID

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2 papers

Recent·Most cited

Alternative splicing dynamics during human cardiac development in vivo and in vitro

Beatriz Gomes-Silva, Marta Furtado, Marta Ribeiro, Sandra Martins, Teresa Carvalho, André Ventura-Gomes, Henrike Maatz, Pragati Parakkat, Claudia Crocini, Michael Gotthardt, Rosina Savisaar, Maria Carmo‐Fonseca

This study maps alternative splicing dynamics during human cardiac development and identifies splicing markers in iPSC-derived cardiomyocytes, revealing both similarities and differences with native cardiac splicing patterns.

Stem Cell Reports · Jan 1, 2026Peer-reviewedDevelopmental Biology

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands, Gavin Arno, Glenda M. Beaman, Beatriz Gomes-Silva, Christopher Campbell, Nicole C. Gossan, Claire L. Hardcastle, Anthony Kevin Webb, Christopher O’Callaghan, Robert Anthony Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, , Graeme Charles M. Black

This paper develops an in-silico and functional analysis framework to identify splicing mutations in rare genomic disorders, finding that SpliceAI prioritization improves diagnostic clarity and yield.

bioRxiv · Sep 26, 2019 · PreprintGenomics