Author

Rosalba Carrozzo

Bambino Gesù Children's HospitalORCID 0000-0002-3327-4054Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad AlahmadiD· 1 shared Amy Goldstein· 1 shared Benjamin Lucas· 1 shared Buthaina AlbashiD· 1 shared Charlotte L. AlstoniD· 1 shared Christopher A. PowelliD· 1 shared Daniela Verrigni· 1 shared Daniele GhezziiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ahmad AlahmadORCID

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1 paper

Recent·Most cited

GeneticsHuman MutationPeer-reviewedMay 2, 2019

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich…·Michal A. Minczuk

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

51 citations

humanDNA methylation

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