Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype
Alice Moroni, Elena Pedrini, Morena Tremosini, Alessia Di Cecco et autres
2 citationsInternational Journal of Molecular Sciences
Dario Cocciadiferro
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55Publications signalées
855Citations signalées
1Affiliations récentes
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Domaines associés
Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersSARS-CoV-2 and COVID-19 ResearchConnective tissue disorders researchGenomic variations and chromosomal abnormalities
Publications récentes
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro et autres
5 citationsThe American Journal of Human Genetics
Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype
Alice Moroni, Elena Pedrini, Morena Tremosini, Alessia Di Cecco et autres
0 citationsPreprints.org
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro et autres
0 citationsUCL Discovery (University College London)
TEMPORARY REMOVAL: Molecular and clinical Insights into KMT2E-Related O’Donnell-Luria-Rodan syndrome in a novel patient cohort
Davide Vecchio, Filippo Maria Panfili, Marina Macchiaiolo, Maria Lisa Dentici et autres
3 citationsEuropean Journal of Medical Genetics
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
Davide Vecchio, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Filippo Maria Panfili et autres
2 citationsFrontiers in Genetics
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli et autres
6 citationsBMC Genomics
Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review
Sonia Lomuscio, Dario Cocciadiferro, Francesco Petrizzelli, Niccolò Liorni et autres
2 citationsGenes
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini et autres
9 citationsFrontiers in Genetics
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.
Vincenzo Quinzi, Cinzia De Luca, Filippo Giovannetti, Alessandra Splendiani et autres
0 citationsPubMed
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Daniele Guadagnolo, Gioia Mastromoro, Bárbara Torres, Enrica Marchionni et autres
0 citationsGenes
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
Enrica Marchionni, Maria Rosaria D’Apice, Viviana Lupo, Giovanna Lattanzi et autres
2 citationsBone Reports
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