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Viviana Cordeddu

Explore the profile of Viviana Cordeddu including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 33
Citations 1078
Followers 0
Related Specialties
Genetics
Molecular Biology
Biochemistry
Top 10 Co-Authors
Marco Tartaglia
Cecilia Mancini
Giuseppe Zampino
Francesca Clementina Radio
Andrea Ciolfi
Bruno Dallapiccola
Manuela Priolo
Alessandro Bruselles
Francesca Pantaleoni
Bruce D Gelb
Published In
Eur J Hum Genet
Am J Hum Genet
Clin Genet
Int J Mol Sci
Hum Mutat
Affiliations
Soon will be listed here.
Recent Articles
1.
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni M, Cappelletti C, et al.
Eur J Hum Genet . 2025 Feb; PMID: 40011755
A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopmental disorder (NDD) characterized by moderate to severe developmental delay (DD),...
2.
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies
Chiriatti L, Priolo M, Onesimo R, Carvetta M, Leoni C, Bruselles A, et al.
Genes (Basel) . 2025 Feb; 16(2). PMID: 40004505
Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene () have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurrent diagnostic handles. Affected individuals...
3.
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Contro G, Baroni M, Caraffi S, Napoli M, Artuso R, Giliberti A, et al.
Clin Genet . 2025 Feb; PMID: 39971730
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability...
4.
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach
Petillo R, De Maggio I, Piscopo C, Chetta M, Tarsitano M, Chiriatti L, et al.
Clin Genet . 2025 Feb; PMID: 39891531
Adult patients with undiagnosed genetic disorders suffer most from diagnostic delay and seldom appear in cohort studies investigating the diagnostic yield in medical genetic clinical practice. Here we present the...
5.
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency
Martino S, DAddabbo P, Turchiano A, Radio F, Bruselles A, Cordeddu V, et al.
Int J Mol Sci . 2024 Sep; 25(17). PMID: 39273584
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has...
6.
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of
Stellacci E, Niceta M, Bruselles A, Straface E, Tatti M, Carvetta M, et al.
Int J Mol Sci . 2024 Aug; 25(15). PMID: 39125883
Bardet-Biedl syndrome (BBS) is a rare recessive multisystem disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, cognitive deficits, and genitourinary defects. BBS is clinically variable and genetically heterogeneous, with 26...
7.
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
Wood K, Tong R, Motta M, Cordeddu V, Scimone E, Bush S, et al.
Am J Hum Genet . 2024 Aug; 111(9):1953-1969. PMID: 39116879
While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging...
8.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Dentici M, Niceta M, Lepri F, Mancini C, Priolo M, Bonnard A, et al.
Eur J Hum Genet . 2024 Jun; 32(8):954-963. PMID: 38824261
Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and...
9.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Brugger M, Lauri A, Zhen Y, Gramegna L, Zott B, Sekulic N, et al.
Am J Hum Genet . 2024 Feb; 111(3):594-613. PMID: 38423010
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six...
10.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
Priolo M, Zara E, Radio F, Ciolfi A, Spadaro F, Bellacchio E, et al.
Eur J Hum Genet . 2023 Apr; 31(7):805-814. PMID: 37059841
RAC1 is a member of the Rac/Rho GTPase subfamily within the RAS superfamily of small GTP-binding proteins, comprising 3 paralogs playing a critical role in actin cytoskeleton remodeling, cell migration,...