Isabella Ceccherini (I Ceccherini)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 23

Top Venues

International journal of molecular sciences

Genes

Clinical genetics

PLoS genetics

Istituto Giannina Gaslini

University of Ferrara (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Istituto Giannina Gaslini

Italy

head :: UOSD Genetica e Genomica delle Malattie Rare

Istituto Giannina Gaslini

Italy

Dirigente Sanitario non medico :: UOC Genetica Medica

Education History

University of Ferrara

Italy

PHD

University of Pisa

Italy

MSC

Publications

Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enrico Cappelli, Silvia Ravera
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. International journal of molecular sciences 25 (4) (2024)
Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enrico Cappelli, Silvia Ravera
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. International journal of molecular sciences 25 (4) (2024)
Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enrico Cappelli, Silvia Ravera
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. International journal of molecular sciences 25 (4) (2024)
Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enrico Cappelli, Silvia Ravera
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. International journal of molecular sciences 25 (4) (2024)
Martina Zambito, Federica Viti, Alessia G Bosio, Isabella Ceccherini, Tullio Florio, Massimo Vassalli
The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation. Nanomaterials (Basel, Switzerland) 13 (7) (2023)
Susan M Slattery, Iris A Perez, Isabella Ceccherini, Maida L Chen, Kyle C Kurek, Kai Lee Yap, Thomas G Keens, Ilya Khaytin, Heather A Ballard, Elizabeth A Sokol, Angeli Mittal, Casey M Rand, Debra E Weese-Mayer
Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome. Clinical autonomic research : official journal of the Clinical Autonomic Research Society (2022)
Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant. International journal of molecular sciences 23 (23) (2022)
Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant. International journal of molecular sciences 23 (23) (2022)
Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant. International journal of molecular sciences 23 (23) (2022)
Giulia Amico, Wayne O Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa, Fred Perrino, Maria Luisa Zedde, Isabella Ceccherini, null On Behalf Of The Gaslini Stroke Study Group
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core. Genes 13 (7) (2022)
Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant. International journal of molecular sciences 23 (23) (2022)
Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant. International journal of molecular sciences 23 (23) (2022)
Nicole Tabarini, Elena Biagi, Paolo Uva, Emanuela Iovino, Tommaso Pippucci, Marco Seri, Andrea Cavalli, Isabella Ceccherini, Marta Rusmini, Federica Viti
Exploration of Tools for the Interpretation of Human Non-Coding Variants. International journal of molecular sciences 23 (21) (2022)
Matteo Paolucci, Chiara Vincenzi, Michele Romoli, Giulia Amico, Isabella Ceccherini, Simona Lattanzi, Anna Bersano, Marco Longoni, Simona Sacco, Fabrizio Vernieri, Rosario Pascarella, Franco Valzania, Maria Luisa Zedde
The Genetic Landscape of Patent Foramen Ovale: A Systematic Review. Genes 12 (12) (2021)
Ana Filipa Geraldo, Roberta Caorsi, Domenico Tortora, Carlo Gandolfo, R Ammendola, Maria Alessio, Giovanni Conti, A Insalaco, Serena Pastore, S Martino, Isabella Ceccherini, Sara Signa, Marco Gattorno, Andrea Rossi, Mariasavina Severino
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency. AJNR. American journal of neuroradiology 42 (5) (2021)
Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, Daniela Guardo, Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients. Genes 12 (9) (2021)
Ivana Matera, Domenico Bordo, Marco Di Duca, Margherita Lerone, Giuseppe Santamaria, Marta Pongiglione, Antonella Lezo, Antonella Diamanti, Maria Immacolata Spagnuolo, Alessio Pini Prato, Daniele Alberti, Girolamo Mattioli, Paolo Gandullia, Isabella Ceccherini
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. Clinical genetics 99 (3) (2020)
Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan G Holland-Cunz, Robert M W Hofstra, Erwin Brosens, Jill Anne Rosenfeld, Christian Patrick Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina de la Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. PLoS genetics 16 (11) (2020)
Alice Grossi, Roberto Cusano, Marta Rusmini, Federica Penco, Francesca Schena, Rosa A Podda, Roberta Caorsi, Marco Gattorno, Paolo Uva, Isabella Ceccherini
ADA2 deficiency due to a novel structural variation in 22q11.1. Clinical genetics 95 (6) (2019)
Tiziana Bachetti, Isabella Ceccherini
Causative and common PHOX2B variants define a broad phenotypic spectrum. Clinical genetics 97 (1) (2019)
Ankur Kumar Jindal, Rakesh Kumar Pilania, Deepti Suri, Anju Gupta, Marco Gattorno, Isabella Ceccherini, Nitin Kumar, Reema Bansal, Ritambhra Nada, Surjit Singh
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatology international 41 (1) (2019)
Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease. Orphanet journal of rare diseases 14 (1) (2019)
Simona Di Lascio, Roberta Benfante, Eleonora Di Zanni, Silvia Cardani, Annalisa Adamo, Diego M M Fornasari, Isabella Ceccherini, Tiziana Bachetti
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome. Human mutation 39 (2) (2017)

Isabella Ceccherini.css-eqlu8i{font-size:small;padding-left:4px;} (I Ceccherini)

Publication Activity (10 Years)

Top Topics

Top Venues

Isabella Ceccherini (I Ceccherini)