Author

Adele D’Amico

Bambino Gesù Children's HospitalORCID 0000-0003-2438-2624Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Research Focus:cell-cell communication· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1 Assay:metabolomics· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Claudio BrunoiD· 2 shared Enrico BertiniiD· 2 shared Aishwarya Dhall· 1 shared Alan H. BeggsiD· 1 shared Alessandro MussaiD· 1 shared Alessandro UsielloiD· 1 shared Amber HassaniD· 1 shared Angelina MeybatovaiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Claudio BrunoORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedFeb 26, 2026

A comprehensive framework for the interpretation of TTN missense variants

Maria Francesca Di Feo, Martin Rees, Victoria Lillback…·Marco Savarese

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

2 citationstop 4%

humanwhole-exome sequencing

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NeuroscienceNeurobiology of DiseasePeer-reviewedFeb 24, 2025

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.

Amber Hassan, Raffaella di Vito, Tommaso Nuzzo…·Alessandro Usiello

The paper investigates amino acid metabolism in spinal muscular atrophy, finding dysregulated D- and L-amino acid levels linked to glutamatergic dysfunction and showing therapeutic potential with D-serine.

9 citationstop 3%

mousehuman

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