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Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 21, 2017
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosisSilvia Majore, Maria Carmela Bonaccorsi di Patti, Michele Valiante, et al.
American Journal of Medical Genetics. Part A|March 6, 2021
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature reviewLisa Pavinato, Slavica Trajkova, Enrico Grosso, et al.
European Journal of Human Genetics : EJHG|April 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variantsManuela Priolo, Erika Zara, Francesca Clementina Radio, et al.
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.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, 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.
Genes|September 28, 2021
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype CorrelationsDomenica I Battaglia, Maria Luigia Gambardella, Stefania Veltri, et al.
Clinical Genetics|January 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial GestaltLuigi Chiriatti, Manuela Priolo, Chiara Leoni, et al.
Clinical Genetics|April 9, 2022
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interactionManuela Priolo, Valentina Palermo, Francesca Aiello, et al.
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