Paolo Uva - Istituto di Ricerche di Biologia Molecolare, Merck Research Laboratories

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Bio

Paolo Uva is a researcher in the Clinical Bioinformatics group at the IRCCS Gaslini since May 2020. He started working of microarray technology, then he focused on the analysis of data generated with massive sequencing technology in diverse scientific contexts (e.g. variant identification, non coding RNA). Current research activities are oriented towards the identification of the genetic basis of inherited disorders using genomic sequencing.

Research Interests

Papers共 128 篇Author StatisticsCo-AuthorSimilar Experts

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Application of Machine Learning in the Diagnostic Work-up of Telomere Biology Disorders

Erika Massaccesi,Luca Arcuri,Giacomo Cavalca,Fabian Beier,Michela Lupia,Davide Cangelosi,Alice Grossi,Marina Lanciotti,Filomena Pierri,Francesca Fioredda,Maurizio Miano,Gianluca Dell'Orso,Maria Carla Giarratana,Daniela Guardo,Lucia Vankann,Francesca Bagnasco,Isabella Ceccherini,Paolo Uva, Tim H. H. Brummendorf,Carlo Dufour

Bloodno. Supplement 1 (2024): 1327-1327

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Histone Deacetylase Inhibition Mitigates Fibrosis-Driven Disease Progression in Recessive Dystrophic Epidermolysis Bullosa

Alessia Primerano,Emanuela De Domenico,Francesca Cianfarani,Naomi De Luca,Giovanna Floriddia,Massimo Teson,Cristina Cristofoletti,Silvia Cardarelli,Giovanni Luca Scaglione,Enke Baldini,Davide Cangelosi,Paolo Uva, Jonathan Fernando Reinoso Sanchez,Carole Roubaty,Joern Dengjel,Alexander Nystroem,Simona Mastroeni,Salvatore Ulisse,Daniele Castiglia,Teresa Odorisio

Journal of Investigative Dermatologyno. 12 (2024): S268

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Unsupervised Analysis Applied to a Cohort of Likely Acquired Neutropenia: is It a Unique Entity

Francesca Fioredda, Saba Kainat,Giacomo Cavalca, Mariacarla Giarratana,Gianluca Dell'Orso,Luca Arcuri,Paolo Uva,Davide Cangelosi,Carlo Dufour

Bloodno. Supplement 1 (2024): 2533-2533

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Immunosuppressive Contribution of Tumor-Infiltrating B Cell Subsets in Human Intrahepatic Cholangiocarcinoma and Their Role in Immunotherapy Response

G. Milardi,B. Franceschini,C. Camisaschi,G. Costa,C. Soldani,P. Uva, D. Cangelosi,R. Carriero, G. Lodetti-Zangrandi, I. Malenica,M. Erreni,T. Pressiani,B. Cassani,G. Torzilli,L. Rimassa,A. Lleo

DIGESTIVE AND LIVER DISEASE (2024): S94-S95

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Late-onset and Long-Lasting Neutropenias in the Young: A New Entity Anticipating Immune-Dysregulation Disorders

F. Fioredda,A. Beccaria, P. Casartelli, E. Turrini, C. Contratto, M. C. Giarratana,F. Bagnasco,F. Saettini,M. Pillon,A. Marzollo,S. Zanardi,A. Civino,D. Onofrillo,M. Lanciotti,I. Ceccherini,A. Grossi,D. Coviello,P. Terranova, M. Lupia, G. Del Borrello,P. Uva, D. Cangelosi, G. Cavalca,M. Miano,C. Dufour

American Journal of Hematology（2024）

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Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene

International Journal of Molecular Sciencesno. 4 (2024): 2083-2083

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Gene Expression Profiling Through Whole Transcriptome Sequencing Predicts Immunological Mechanisms in Hirschsprung Associated Enterocolitis

Francesca Rosamilia,Francesca Calcaterra,Francesco Caroli,Marta Rusmini,Alice Grossi,Paolo Uva,Alessio Pini Prato,Domenico Mavilio,Isabella Ceccherini,Francesca Lantieri

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 124-125

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Identification of a Histone Deacetylase Inhibitor As a Therapeutic Candidate for Congenital Central Hypoventilation Syndrome

Chiara Africano,Tiziana Bachetti,Paolo Uva,Gabriel Pitollat,Genny Del Zotto,Francesca Giacopelli, Giada Recchi,Nicolas Lenfant,Amelia Madani, Nathan Beckouche,Muriel Thoby-Brisson,Isabella Ceccherini

Molecular Therapy — Nucleic Acidspp.102319-102319, (2024)

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