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Journal of Clinical Immunology|October 31, 2021
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the LiteratureAntonio Marzollo, Francesca Conti, Linda Rossini, et al.
Human Genetics|May 18, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotEnza Ferrero, Eleonora Di Gregorio, Marta Ferrero, et al.
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
BMC Medical Genomics|June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathwaysCecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.
Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Molecular Cytogenetics|December 2, 2014
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHEleonora Di Gregorio, Elisa Savin, Elisa Biamino, et al.
BMC Medical Genetics|May 1, 2015
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2Cecilia Mancini, Laura Orsi, Yiran Guo, et al.
The New England Journal of Medicine|February 4, 2011
NT5E mutations and arterial calcificationsCynthia St Hilaire, Shira G Ziegler, Thomas C Markello, et al.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
HGG Advances|June 27, 2026
Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective StudySelene Cipri, Giada Del Baldo, Emanuele Agolini, et al.
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