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International Journal of Molecular Sciences|November 20, 2019
Gene Therapy in Retinal DystrophiesLucia Ziccardi, Viviana Cordeddu, Lucia Gaddini, et al.
Progress in Neuro-Psychopharmacology & Biological Psychiatry|February 24, 2019
Copy number variants in autism spectrum disordersStefano Vicari, Eleonora Napoli, Viviana Cordeddu, et al.
Human Molecular Genetics|July 29, 2016
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signallingMarialetizia Motta, Giovanni Chillemi, Valentina Fodale, et al.
Genes|May 28, 2022
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic VariantsManuela Priolo, Cecilia Mancini, Simone Pizzi, et al.
The Journal of Clinical Endocrinology and Metabolism|May 10, 2007
High risk of congenital hypothyroidism in multiple pregnanciesAntonella Olivieri, Emanuela Medda, Simona De Angelis, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 3, 2023
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric featuresManuela Priolo, Cecilia Mancini, Francesca Clementina Radio, et al.
Genes|July 2, 2021
Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF PhenotypeManuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.
International Journal of Molecular Sciences|April 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in <i>POMGNT1</i>Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea, et al.
American Journal of Human Genetics|July 13, 2004
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia, Viviana Cordeddu, Hong Chang, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
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