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Scientific Reports|November 23, 2017
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcriptEnza Ferrero, Nicola Lo Buono, Simona Morone, 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.
Movement Disorders : Official Journal of the Movement Disorder Society|April 30, 2024
Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeSerena Galosi, Cecilia Mancini, Anna Commone, 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.
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.
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.
Scientific Reports|November 20, 2020
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patientsElisa Pozzi, Elisa Giorgio, Cecilia Mancini, 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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