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Dario Cocciadiferro

Explore the profile of Dario Cocciadiferro including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 36
Citations 362
Followers 0
Related Specialties
Genetics
Cell Biology
General Medicine
Top 10 Co-Authors
Antonio Novelli
Emanuele Agolini
Maria Cristina Digilio
Giuseppe Novelli
Giuseppe Merla
Bruno Dallapiccola
Tommaso Mazza
Lucia Micale
Natascia Malerba
Marco Castori
Published In
Clin Genet
Front Genet
Genes (Basel)
Am J Hum Genet
Am J Med Genet A
Affiliations
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Recent Articles
1.
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, et al.
Am J Hum Genet . 2025 Mar; PMID: 40081376
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to...
2.
Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review
Lomuscio S, Cocciadiferro D, Petrizzelli F, Liorni N, Mazza T, Allegorico A, et al.
Genes (Basel) . 2025 Jan; 15(12. PMID: 39766840
: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic...
3.
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis
Vecchio D, Macchiaiolo M, Gonfiantini M, Panfili F, Petrizzelli F, Liorni N, et al.
Front Genet . 2024 Dec; 15:1477940. PMID: 39722796
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549)...
4.
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
Vecchio D, Panfili F, Macchiaiolo M, Dentici M, Trivisano M, Medina C, et al.
Eur J Med Genet . 2024 Dec; 73:104990. PMID: 39709003
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the...
5.
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Granata P, Zito A, Cocciadiferro D, Novelli A, Pessina C, Mazza T, et al.
BMC Genomics . 2024 Dec; 25(1):1186. PMID: 39654053
Background: Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study...
6.
Exploiting structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, et al.
Front Genet . 2024 Jan; 14:1307934. PMID: 38239854
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations...
7.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Guadagnolo D, Mastromoro G, Torres B, Marchionni E, di Palma F, Goldoni M, et al.
Genes (Basel) . 2023 Dec; 14(12). PMID: 38136979
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In...
8.
Clinical and functional characterization of p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Marchionni E, DApice M, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, et al.
Bone Rep . 2023 Dec; 19:101728. PMID: 38076483
gene encodes the alpha-1 chain of type-II procollagen. Heterozygous pathogenic variants are associated with the broad clinical spectrum of genetic diseases known as type-II collagenopathies. We aimed to characterize the...
9.
COVID-19: S-Peptide RBD Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients
Murdocca M, Citro G, Centanini E, Giannini R, Latini A, Centofanti F, et al.
Viruses . 2023 Jul; 15(7). PMID: 37515105
Despite the availability on the market of different anti-SARS-CoV-2 vaccines, there are still unanswered questions on whether they can stimulate long-lasting protection. A deep understanding of adaptive immune response to...
10.
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach
Fontana P, Agolini E, Cocciadiferro D, Mazzarelli L, Di Meglio A, Novelli A, et al.
J Matern Fetal Neonatal Med . 2023 Apr; 36(1):2205985. PMID: 37100787
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of...