Author

Romina Ficarella

ORCID 0009-0002-5112-1497Unclaimed 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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Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Emanuela PonziiD· 2 shared Mattia GentileiD· 2 shared Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared Alexandra Wiedemann· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emanuela PonziORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 9, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

73 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintFeb 9, 2022

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

Giulia Cova, Juliane Glaser, Robert Schöpflin…·Stefan Mundlos

The paper investigates how genomic rearrangements at the Lbx1/Fgf8 locus cause SHFM3 by altering chromatin structure and gene expression in mice.

1 citation

mousebulk RNA-seq

𝕏 PostBluesky