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Genes|February 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear AnomaliesLuigi Chiriatti, Manuela Priolo, Roberta Onesimo, et al.
Pediatric Neurology|December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsSabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Brain Pathology (Zurich, Switzerland)|December 30, 2020
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal disseminationSabrina Rossi, Sabina Barresi, Isabella Giovannoni, et al.
Human Genomics|November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing dataFerdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.
Journal of the Neurological Sciences|July 6, 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibsRaffaella Di Giacopo, Luciano Cianetti, Viviana Caputo, et al.
Human Molecular Genetics|March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathyAntonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examplesElisa Giorgio, Andrea Ciolfi, Elisa Biamino, et al.
Nature Communications|January 31, 2020
Modeling medulloblastoma in vivo and with human cerebellar organoidsClaudio Ballabio, Marica Anderle, Matteo Gianesello, et al.
The Journal of Pathology|April 17, 2024
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumorsMarialetizia Motta, Sabina Barresi, Simone Pizzi, et al.
Genes|October 29, 2025
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular MusclesCecilia Mancini, Luigi Chiriatti, Alessandro Bruselles, et al.
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