Author

Paola Forabosco

Institute of Genetic and Biomedical ResearchORCID 0000-0002-2006-2693Unclaimed 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:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Organism:mouse· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adaikalavan RamasamyiD· 1 shared Akbota M. AitkulovaiD· 1 shared Alastair John NoyceiD· 1 shared Álvaro Sánchez‐FerreriD· 1 shared Andrea MaschioiD· 1 shared Antonella MulasiD· 1 shared Ben MiddlehurstiD· 1 shared Caleb WebberiD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Adaikalavan RamasamyORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineBritish Journal of HaematologyPeer-reviewedNov 20, 2020

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

Fabio Busonero, Maristella Steri, Valeria Orrù…·Francesco Cucca

The paper identifies a rare Sardinian founder mutation in GP1BB associated with thrombocytopenia and reduced GPIb-IX-V complex expression.

2 citations

humanwhole-genome sequencing

GeneticsBrainPeer-reviewedJun 17, 2020

Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

Niccolò Emanuele Mencacci, Regina Hertfelder Reynolds, Sonia García-Ruiz…·Caleb Webber

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

64 citationstop 3%

mousebulk RNA-seq