Author

Giacomo P. Comi

University of MilanORCID 0000-0002-1383-5248Unclaimed 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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Research Focus:differential expression· 3 Organism:human· 3 Assay:bulk RNA-seq· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Alessio Di FonzoiD· 1 shared Alex Vincent PostmaiD· 1 shared Alexa M.C. VermeeriD· 1 shared Allison SowaiD· 1 shared Amanda AllaniD· 1 shared Andrea D’Angelo· 1 shared Antonio M. A. MirandaiD· 1 shared Arie O. VerkerkiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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1 shared paperGenetic & Genomic Medicine

Alessio Di FonzoORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Targeted Antisense Oligonucleotide Treatment Rescues Developmental Alterations in Spinal Muscular Atrophy Organoids

Irene Faravelli, Paola Rinchetti, Monica Tambalo, Illia Simutin, Lisa Mapelli, Sara Mancinelli, Matteo Miotto, Mafalda Rizzuti, Andrea D’Angelo, Chiara Cordiglieri, Giulia Forotti, Clelia Peano, Paolo Kunderfranco, Luca Calandriello, Giacomo P. Comi, , Stefania Paola Corti

This study shows that early ASO treatment rescues developmental defects in SMA organoids by restoring SMN levels and correcting splicing defects.

Nature Communications · Dec 21, 2025Peer-reviewedNeuroscience

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Michele Nicastro, Alexa M.C. Vermeer, Pieter Gerard Postema, Rafik Tadros, Forrest Z. Bowling, Hildur M. Aegisdottir, Vinicius Tragante, Lukas Mach, Alex Vincent Postma, Elisabeth M. Lodder, Karel van Duijvenboden, Rob Zwart, Leander Beekman, Lingshuang Wu, Paul A. van der Zwaag, , Najim Lahrouchi

medRxiv · Jul 4, 2024 · PreprintGenetic & Genomic Medicine

Transcriptome deregulation of peripheral monocytes in GBA-related Parkinson's disease

Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, Kátia de Paiva Lopes, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, Josep Oriol Narcís, Shilpa Dilip Kumar, , Towfique Raj

The paper identifies transcriptomic changes in monocytes from GBA mutation carriers with Parkinson's disease, highlighting dysregulated pathways related to alpha-synuclein degradation and lysosomal function.

Molecular Neurodegeneration · Aug 17, 2022Peer-reviewedGenetic & Genomic Medicine