Author

Maria Francesca Bedeschi

Fondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoORCID 0000-0002-6723-9177Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:polygenic risk· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amy E. RobertsiD· 2 shared Beth A. KozeliD· 2 shared Carolyn Β. MervisiD· 2 shared D. Liu· 2 shared Elisa BiaminoiD· 2 shared Gabriella Maria SqueoiD· 2 shared Giuseppe MerlaiD· 2 shared J. A. Freeman· 2 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amy E. RobertsORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 17, 2024

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

D. Liu, Carolyn Β. Mervis, Mark David Levin…·Beth A. Kozel

The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.

DOI 10.1101/2024.09.17.24313555

humanstatistical model

Genetic & Genomic MedicinemedRxivPreprintSep 21, 2022

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

D. Liu, Charles John Billington, N. Raja…·Beth A. Kozel

The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.

DOI 10.1101/2022.09.21.22280107

humanwhole-genome sequencing

NeurosciencebioRxivPreprintFeb 7, 2019

The development of spatiotemporal organization of episodic memory in children and its disruption in Williams Syndrome

Marilina Mastrogiuseppe, Natasha Bertelsen, Maria Francesca Bedeschi, Sang Ah Lee

This study investigates how spatiotemporal organization develops in children's episodic memory and is disrupted in Williams Syndrome using a nonverbal object-placement task.

1 citation

humanexperimental assay