Marco Savarese

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E-postadressmarco.savaresehelsinkifi

Finland

Forskningsoutput per år

55 Artikel
5 Mötesabstrakt
5 Översiktsartikel
1 Kapitel
Mer
- 1 Poster
- 1 Ledare
- 1 Brev

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-EURO-NMD, Solve-RD DITF-RND, Solve-RD consortium, Laurie, S., Steyaert, W., de Boer, E., Johari, M., Savarese, M. & Udd, B., jan. 2025, (!!E-pub ahead of print) I: Nature Medicine. 34 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
Oghabian, A., Jonson, P. H., Gayathri, S. N., Johari, M., Nippala, E., Andres, D. G., Munell, F., Soriano, J. C., Duran, M. A. S., Sinisalo, J., Tolppanen, H., Tolva, J., Hackman, P., Savarese, M. & Udd, B., 1 mars 2025, I: Skeletal Muscle. 15, 1, 13 s., 5.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
on behalf of the Solve-RD consortium, Steyaert, W., Sagath, L., Demidov, G., Savarese, M. & Vissers, L. E. L. M., apr. 2025, I: Genome Research. 35, 4, s. 755-768 14 s.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family
Claeys, K. G., Savarese, M., Jonson, P. H., Goosens, V., Topf, A., Vihola, A., Straub, V. & Udd, B., okt. 2024, I: Neurology Genetics. 10, 5, 6 s., e200185.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Solve-RD consortium, Demidov, G., Yaldiz, B., Garcia-Pelaez, J., Zguro, K., Udd, B., Savarese, M., Johari, M., Hackman, P. & Sagath, L., dec. 2024, I: Npj genomic medicine. 9, 1, 24 s., 49.
Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

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1 Aktiv

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)
Johari, M. (Projektledare), Hackman, P. (Projektledare), Udd, B. (Principal Investigator) & Savarese, M. (Deltagare)
Päivikki ja Sakari Sohlbergin Säätiö
01/10/2014 → …
Projekt: Forskningsprojekt

Marco Savarese

Internationellt och inhemskt samarbete

Fördjupning

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)

Marco Savarese

Internationellt och inhemskt samarbete

Publikationer

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Projekter

Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)