Author

Maristella Pitzalis

Institute of Genetic and Biomedical ResearchORCID 0000-0003-4975-6987Unclaimed 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:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:fine-mapping· 1 Research Focus:genome assembly· 1 Research Focus:phylogenetics / evolution· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrea MaschioiD· 2 shared Carlo SidoreiD· 2 shared David SchlessingeriD· 2 shared Fabio BusoneroiD· 2 shared Francesco CuccaiD· 2 shared Gonçalo R. AbecasisiD· 2 shared Magdalena ŻołędziewskaiD· 2 shared Maristella SteriiD· 2 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrea MaschioORCID

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2 papers

Recent·Most cited

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

Fabio Busonero, Maristella Steri, Valeria Orrù, Gabriella Sole, Stefania Olla, Michele Marongiu, Carlo Sidore, Sandra Lai, Antonella Mulas, Andrea Maschio, Magdalena Żołędziewska, Matteo Floris, Mauro Pala, Paola Forabosco, Isadora Asunis, , Francesco Cucca

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

British Journal of Haematology · Nov 20, 2020Peer-reviewedGenetic & Genomic Medicine

Population history of the Sardinian people inferred from whole-genome sequencing

Charleston W. K. Chiang, Joseph H. Marcus, Carlo Sidore, Arjun Biddanda, Hussein Al-Asadi, Magdalena Żołędziewska, Maristella Pitzalis, Fabio Busonero, Andrea Maschio, Giorgio Pistis, Maristella Steri, Andrea Angius, Kirk E. Lohmueller, Gonçalo R. Abecasis, David Schlessinger, , John Novembre

This study uses whole-genome sequencing of 3,514 Sardinians to explore population history, finding genetic isolation in the Gennargentu region and sex-biased demographic patterns.

Nature Genetics · Sep 7, 2018Peer-reviewedGenetics