Author

Federica Boraldi

University of Modena and Reggio EmiliaORCID 0000-0002-0277-9017Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Ágnes Mikó· 1 shared Ambrus KaposiiD· 1 shared Daniela QuaglinoiD· 1 shared Flóra SzeriiD· 1 shared Jouni UittoiD· 1 shared Kálmán ToryiD· 1 shared Koen van de WeteringiD· 1 shared Ludovic MartiniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ágnes Mikó

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1 paper

Recent·Most cited

The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum

Flóra Szeri, Ágnes Mikó, Nastassia M. Navasiolava, Ambrus Kaposi, Shana Verschuere, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kálmán Tory, Tamás Arányi

The paper investigates incomplete penetrance of the p.R391G ABCC6 variant in pseudoxanthoma elasticum, suggesting the need for an interacting partner for disease development.

medRxiv · Nov 26, 2020 · PreprintGenetic & Genomic Medicine