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Collaborations and top research areas from the last five years
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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
BE, D. M., Leoni, C., Cartisano, E., Fossati, C., Viscogliosi, G., Trevisan, V., LP, B., Conti, F., Moratti, M., Monaco, E., Rigante, D., Rivalta, B., Cancrini, C., Szczawińska-Popłonyk, A., Jamsheer, A., Obara-Moszyńska, M., Zakharova, V., Shcherbina, A., Rodina, J. & Tüysüz, B. & 16 others, , 2025, In: Frontiers in Immunology. 16, 16: 1598896, p. 1-11 11 p.Research output: Contribution to journal › Article
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Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.
Bellani, I., Trevisan, V., Viscogliosi, G., MG, P., Chiurazzi, P., Mussa, A., Zampino, G., Genuardi, M. & Leoni, C., 2025, In: Clinical Genetics. 108, 5, p. 609-611 3 p.Research output: Contribution to journal › Article
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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
L'Erario, F. F., Gazzellone, A., Contaldo, I., Veredice, C., Carapelle, M., Renzi, A. G., Modafferi, C., Palucci, M., D'Ambrosio, P., Sonnini, E., Loberti, L., Panfili, A., Lucci Cordisco, E., Chiurazzi, P., Trevisan, V., Leoni, C., Zampino, G., Pomponi, M. G., Orteschi, D. & Zollino, M. & 1 others, , 2025, In: Genes. 16, 4, p. 469-469 1 p.Research output: Contribution to journal › Article
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Distinct pro-inflammatory/pro-angiogenetic signatures distinguish children with Long COVID from controls.
Buonsenso, D., Cotugno, N., Amodio, D., Pascucci, G. R., Sante, G. D., Pighi, C., Morrocchi, E., Pucci, A., Olivieri, G., Colantoni, N., Romani, L., Rotili, A., Neri, A., Morello, R., Sali, M., Tremoulet, A., Raffaelli, F., Zampino, G., Rossi, P. & Valentini, P. & 1 others, , 2025, In: Pediatric Research. Jan, p. N/A-N/AResearch output: Contribution to journal › Article
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Do rare genetic conditions exhibit a specific phonotype? A comprehensive description of the vocal traits associated with Crisponi/Cold-Induced Sweating Syndrome type 1.
Calà, F., Sforza, E., D'Alatri, L., Frassineti, L., Manfredi, C., Onesimo, R., Rigante, D., Pane, M., Servidei, S., Primiano, G. A., Crisponi, G., Crisponi, L., Leoni, C., Lanatà, A. & Zampino, G., 2025, In: Genes. 2025, 16: 881, p. 1-10 10 p.Research output: Contribution to journal › Article
Datasets
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Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
Onesimo, R. (Creator), Leoni, C. (Creator), Rigante, M. (Creator), Piastra, M. (Creator), Sforza, E. (Creator), Selicorni, A. (Creator) & Zampino, G. (Creator), figshare, 2023
DOI: 10.6084/m9.figshare.c.6744807.v1, https://springernature.figshare.com/collections/Nasal_polyposis_in_pediatric_patients_with_Cornelia_de_Lange_syndrome_endoscopic_diagnosis_treatment_and_follow_up_in_two_case_reports/6744807/1
Dataset
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Additional file 2 of Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
Onesimo, R. (Creator), Leoni, C. (Creator), Rigante, M. (Creator), Piastra, M. (Creator), Sforza, E. (Creator), Selicorni, A. (Creator) & Zampino, G. (Creator), figshare, 2023
DOI: 10.6084/m9.figshare.23692920, https://springernature.figshare.com/articles/media/Additional_file_2_of_Nasal_polyposis_in_pediatric_patients_with_Cornelia_de_Lange_syndrome_endoscopic_diagnosis_treatment_and_follow_up_in_two_case_reports/23692920
Dataset
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Supplementary material - fmb-2022-0031
Buonsenso, D. (Creator), Gennaro, L. D. (Creator), Rose, C. D. (Contributor), Morello, R. (Creator), D'Ilario, F. (Contributor), Zampino, G. (Creator), Piazza, M. (Creator), Boner, A. L. (Creator), Iraci, C. (Creator), O'Connell, S. (Contributor), Cohen, V. B. (Contributor), Esposito, S. (Creator), Munblit, D. (Creator), Reena, J. (Creator), Sigfrid, L. (Creator) & Valentini, P. (Creator), Taylor & Francis, 2022
DOI: 10.25402/fmb.19336400.v1, https://tandf.figshare.com/articles/dataset/Supplementary_material_-_fmb-2022-0031/19336400/1
Dataset
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Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era
Mercuri, E. (Creator), Zampino, G. (Creator), Morsella, A. (Creator), Pane, M. (Creator), Onesimo, R. (Creator), Angioletti, C. (Creator), Valentini, P. (Creator), Rendeli, C. (Creator), Ruggiero, A. (Creator), Nanni, L. (Creator), Chiaretti, A. (Creator), Vento, G. (Creator), Korn, D. (Creator), Meneschincheri, E. (Creator), Sergi, P. (Creator), Scambia, G. (Creator), Ricciardi, W. (Creator), Cambieri, A. (Creator) & De Belvis, A. G. (Contributor), figshare, 2021
DOI: 10.6084/m9.figshare.c.5303960.v1, https://springernature.figshare.com/collections/Contactless_a_new_personalised_telehealth_model_in_chronic_pediatric_diseases_and_disability_during_the_COVID-19_era/5303960/1
Dataset
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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Leoni, C. (Creator), Romeo, D. M. (Creator), Pelliccioni, M. (Creator), Di Già, M. (Contributor), Onesimo, R. (Creator), Giorgio, V. (Creator), Flex, E. (Creator), Tedesco, M. (Creator), Tartaglia, M. (Creator), Rigante, D. (Creator), Valassina, A. (Creator) & Zampino, G. (Creator), figshare, 2021
DOI: 10.6084/m9.figshare.c.5279217.v1, https://springernature.figshare.com/collections/Musculo-skeletal_phenotype_of_Costello_syndrome_and_cardio-facio-cutaneous_syndrome_insights_on_the_functional_assessment_status/5279217/1
Dataset