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I

Isabella Ceccherini

uosd research laboratories

60H-index
390Paper Count
2.2WCitation Count
Published Papers 128
Publication Date
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Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen
errMolecular Medicine
IF6.4
err2026-08-05
err0
errOAAI
errFrancesca Rosamilia; Giulia Camisassi; Giulia Amico; Katarzyna Zybert; Maria Baffico; Laura Barrocu; Michela Cassanello; Cristina Cereda; Yeraldin Chiquinquira Castillo De Spelorzi; Diego Vozzi; Domenico Coviello; Carola Di Meo; Daniela Dolce; Elvira Sondo; Dorota Sands; Vito Terlizzi; Isabella Ceccherini; Mohamad Maghnie; Paolo Uva; Carlo Castellani
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Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity
errMolecular Medicine
IF6.4
err2026-05-27
err0
errOAAI
errFrancesca Lantieri; Stefania Croci; Sergio Decherchi; Marta Rusmini; Giada Recchi; Martina Bonacini; Ilaria Ferrigno; Alessandro Rossi; Yeraldin Chiquinquira Castillo De Spelorzi; Edoardo Henzen; Francesca Rosamilia; Davide Cangelosi; Fabio Landuzzi; Andrea Angius; Vincenzo Rallo; Pamela Mancuso; Annamaria Pezzarossi; Paolo Giorgi Rossi; Mariagrazia Catanoso; Marco Gattorno; Andrea Cavalli; Pier Luigi Meroni; Diego Vozzi; Paolo Uva; Isabella Ceccherini; Carlo Salvarani
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PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS
errMolecular Medicine
IF6.4
err2026-05-18
err0
errOAAI
errChiara Africano; Tiziana Bachetti; Eleonora Di Zanni; Giuseppe Santamaria; Roberto Cusano; Ignazia Prigione; Genny Del Zotto; Paolo Uva; Isabella Ceccherini
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International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease
errneurogastroenterology & motility
IF0
err2026-04-14
err0
errOAAI
errPascal De Santa Barbara; Isabella Ceccherini; Robert O. Heuckeroth; Carlo Di Lorenzo; Maria M. Alves; Arthur Beyder; Osvaldo Borrelli; Ludovica Cacopardo; Rachel Ceron; Jihong Chen; Federica Chiappori; Antonio Contessa; Roberto De Giorgio; Antonella Diamanti; Maria Grazia Faticato; Sandrine Faure; Sohaib K. Hashmi; Jan D. Huizinga; Raj P. Kapur; Cecile Lambe; Laurence Lancon; Ryan McManigal; Hayat Mousa; Alessandro Palmitelli; Victor Perreaux; Alessio Pini Prato; Michela Pitto; Elisa Proietti; John Rendu; Anna Rybak; Kenton M. Sanders; Sabah Sardar; Vincenzo Stanghellini; Renato Tambucci; Nikhil Thapar; Pieter Vanden Berghe; Massimo Vassalli; Qianqian Wang; Michael Wangler; Sharon Wolfson; Almira Zada; Jiliang Zhou; Federica Viti
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Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes
errMolecular Genetics and Metabolism
IF3.5
err2025-11-30
err0
errOAAI
errTiziana Bachetti; Ylenia Vaia; Alice Grossi; Francesca Rosamilia; Enrico Bertini; Francesco Nicita; Deianira Bellitto; Florian Eichler; Geneviève Bernard; Amanda Nagy; Ayelet Zerem; Morteza Heidari; Ali Reza Tavasoli; Isabella Moroni; Isabella Ceccherini; Davide Tonduti
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errSave
Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing
errThe Journal of Allergy and Clinical Immunology: In Practice
IF6.6
err2025-11-28
err0
errOAAI
errAlice Grossi; Alessia Cafaro; Marta Rusmini; Francesca Rosamilia; Michela Malacarne; Barbara Testa; Michela Lupia; Maria Carla Giarratana; Maurizio Miano; Federica Barzaghi; Roberta Caorsi; Chiara Conti; Diego Vozzi; Paolo Uva; Giuliana Cangemi; Carlo Dufour; Marco Gattorno; Isabella Ceccherini
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The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome
errFrontiers in Physiology
IF3.4
err2025-09-29
err0
errOAAI
errTiziana Bachetti; Simona Bagnasco; Giuseppe Santamaria; Maria Francesca Bedeschi; Francesca Menni; Igor Catalano; Luigina Spaccini; Francesco Cavigioli; Francesco Morandi; Isabella Ceccherini
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errSave
Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-12-01
err1
errOAAI
errAfricano, Chiara; Bachetti, Tiziana; Uva, Paolo; Pitollat, Gabriel; Del Zotto, Genny; Giacopelli, Francesca; Recchi, Giada; Lenfant, Nicolas; Madani, Amelia; Beckouche, Nathan; Thoby-Brisson, Muriel; Ceccherini, Isabella
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A systematic review and meta-analysis of GFAP gene variants in Alexander disease
errSCIENTIFIC REPORTS
IF3.9
err2024-10-17
err3
errOAAI
errGrossi, Alice; Rosamilia, Francesca; Carestiato, Silvia; Salsano, Ettore; Ceccherini, Isabella; Bachetti, Tiziana
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Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders
errAMERICAN JOURNAL OF HEMATOLOGY
IF9.9
err2024-01-29
err0
PREAI
errFioredda, F.; Beccaria, A.; Casartelli, P.; Turrini, E.; Contratto, C.; Giarratana, M. C.; Bagnasco, F.; Saettini, F.; Pillon, M.; Marzollo, A.; Zanardi, S.; Civino, A.; Onofrillo, D.; Lanciotti, M.; Ceccherini, I.; Grossi, A.; Coviello, D.; Terranova, P.; Lupia, M.; Del Borrello, G.; Uva, P.; Cangelosi, D.; Cavalca, G.; Miano, M.; Dufour, C.
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A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-10-27
err3
errOAAI
errErculiani, M.; Poluzzi, F.; Mottadelli, G.; Felici, E.; Novi, M. L.; Caraccia, M.; Grandi, A.; Casella, S.; Giacometti, L.; Montobbio, G.; Ceccherini, I; Di Marco, E.; Bonaretti, C.; Biassoni, R.; Squillario, M.; Pietrantoni, A.; Villanacci, V.; Prato, A. Pini
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errSave
Patient's dermal fibroblasts as disease markers for visceral myopathy
errBIOMATERIALS ADVANCES
IF6
err2023-05-01
err2
errOAAI
errViti, Federica; Pramotton, Francesca Micaela; Martufi, Michela; Magrassi, Raffaella; Pedemonte, Nicoletta; Nizzari, Mario; Zanacchi, Francesca Cella; De Michele, Benedetta; Alampi, Manuela; Zambito, Martina; Santamaria, Giuseppe; Bajetto, Adriana; Sardar, Sabah; Tomati, Valeria; Gandullia, Paolo; Giampietro, Costanza; Florio, Tullio; Beltrame, Francesco; Vassalli, Massimo; Ceccherini, Isabella
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The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation
errNANOMATERIALS
IF4.3
err2023-03-27
err5
errOAAI
errZambito, Martina; Viti, Federica; Bosio, Alessia G.; Ceccherini, Isabella; Florio, Tullio; Vassalli, Massimo
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The sensitivity of activated Cys Ret mutants to glial cell line-derived neurotrophic factor is mandatory to rescue neuroectodermic cells from apoptosis
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-27
err22
errOAAI
errMograbi, B; Bocciardi, R; Bourget, I; Juhel, T; Farahi-Far, D; Romeo, G; Ceccherini, I; Rossi, B
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errSave
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
errHEMASPHERE
IF14.6
err2023-03-01
err6
errOAAI
errPalmisani, Elena; Miano, Maurizio; Grossi, Alice; Lanciotti, Marina; Lupia, Michela; Terranova, Paola; Ceccherini, Isabella; Montanari, Eugenia; Calvillo, Michaela; Pierri, Filomena; Micalizzi, Concetta; Maggiore, Rosario; Guardo, Daniela; Zanardi, Sabrina; Facchini, Elena; Maggio, Angela; Mastrodicasa, Elena; Corti, Paola; Russo, Giovanna; Pillon, Marta; Farruggia, Piero; Cesaro, Simone; Barone, Angelica; Tosetti, Francesca; Ramenghi, Ugo; Crescenzio, Nicoletta; Bleesing, Jack; Dufour, Carlo; Fioredda, Francesca
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Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
errCLINICAL AUTONOMIC RESEARCH
IF3.4
err2022-11-20
err10
PREAI
errSlattery, Susan M.; Perez, Iris A.; Ceccherini, Isabella; Chen, Maida L.; Kurek, Kyle C.; Yap, Kai Lee; Keens, Thomas G.; Khaytin, Ilya; Ballard, Heather A.; Sokol, Elizabeth A.; Mittal, Angeli; Rand, Casey M.; Weese-Mayer, Debra E.
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TACI variants as underlying condition in autoimmune neutropenia: Description of four cases
errAMERICAN JOURNAL OF HEMATOLOGY
IF9.9
err2022-06-27
err4
errOAAI
errFioredda, Francesca; Beccaria, Andrea; Turrini, Elena; Casartelli, Pietro; Coviello, Domenico; Maffei, Massimo; Lanciotti, Marina; Lupia, Michela; Terranova, Paola; Grossi, Alice; Ceccherini, Isabella; Miano, Maurizio; Dufour, Carlo
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errSave
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2022-05-19
err1
errOAAI
errDel Borrello, Giovanni; Miano, Maurizio; Micalizzi, Concetta; Lupia, Michela; Ceccherini, Isabella; Grossi, Alice; Cavalli, Andrea; Gustincich, Stefano; Rusmini, Marta; Faraci, Maura; Dell'Orso, Gianluca; Ramenghi, Ugo; Mesini, Alessio; Ricci, Erica; Schiavone, Maurizio; Di Iorgi, Natascia; Dufour, Carlo
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Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2022-05-17
err11
errOAAI
errMiano, Maurizio; Guardo, Daniela; Grossi, Alice; Palmisani, Elena; Fioredda, Francesca; Terranova, Paola; Cappelli, Enrico; Lupia, Michela; Traverso, Monica; Dell'Orso, Gianluca; Corsolini, Fabio; Beccaria, Andrea; Lanciotti, Marina; Ceccherini, Isabella; Dufour, Carlo
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Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The Fil Rouge of Treg Between IPEX Features and Other Clinical Entities?
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2022-04-11
err5
errOAAI
errGentile, Micaela; Miano, Maurizio; Terranova, Paola; Giardino, Stefano; Faraci, Maura; Pierri, Filomena; Drago, Enrico; Verzola, Daniela; Ghiggeri, Gianmarco; Verrina, Enrico; Angeletti, Andrea; Cafferata, Barbara; Grossi, Alice; Ceccherini, Isabella; Caridi, Gianluca; Lugani, Francesca; Nescis, Lorenzo; Fiaccadori, Enrico; Lanino, Luca; Fenoglio, Daniela; La Porta, Edoardo
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Research Directions

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Co-authors
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