Author

Guido C Casalis Cavalchini

Azienda Ospedaliera Citta' della Salute e della Scienza di TorinoORCID 0000-0001-8519-1923Unclaimed 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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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alfredo BruscoiD· 1 shared Bjarne UddiD· 1 shared Elisa GiorgioiD· 1 shared Luigina SpacciniiD· 1 shared Manu E. JokelaiD· 1 shared Marco SavareseiD· 1 shared Maria Francesca Di FeoiD· 1 shared Maria Rosaria IasconeiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alfredo BruscoORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedMar 28, 2023

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum

Maria Francesca Di Feo, Victoria Lillback, Manu E. Jokela…·Bjarne Udd

This study identifies severe developmental anomalies and high miscarriage rates in patients with biallelic titin truncating variants, highlighting the need for TTN evaluation in congenital musculoskeletal and cardiac conditions.

15 citations

humanstatistical model

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