Grazia Nardella

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index358citations33works0.62yr avg
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Research Topics

Connective tissue disorders research(6), Vascular Malformations Diagnosis and Treatment(5), Intracranial Aneurysms: Treatment and Complications(4), Intracerebral and Subarachnoid Hemorrhage Research(4), Cell Adhesion Molecules Research(3)

Publications33 total

Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2025
BEYOND THE RHYTHM – GENOMIC AND CLINICAL PROFILING OF INHERITED CARDIAC DISORDERS IN SOUTHERN ITALY
European Heart Journal Supplements·2025
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders
Journal of Human Genetics·2025
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
European Journal of Human Genetics·2024· 2 cited
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Journal of Human Genetics·2024· 1 cited
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Journal of Human Genetics·2023· 1 cited
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Frontiers in Endocrinology·2023· 6 citedOpen Access
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Human Genetics·2023· 4 cited
Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research·2023· 2 citedOpen Access
Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene
International Journal of Molecular Sciences·2022· 4 citedOpen Access
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
Pediatric Research·2022· 2 citedOpen Access
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells
Genes·2022· 7 citedOpen Access
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
Genetics in Medicine·2021· 3 citedOpen Access
Improving clinical interpretation of five <scp> <i>KRIT1</i> </scp> and <scp> <i>PDCD10</i> </scp> intronic variants
Clinical Genetics·2021· 1 cited
Author response for "Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants"
2021Open Access
Review of clinical and molecular variability in autosomal recessive cutis laxa <scp>2A</scp>
American Journal of Medical Genetics Part A·2020· 7 cited
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
Genes·2020· 18 citedOpen Access
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation
International Journal of Molecular Sciences·2020· 14 citedOpen Access
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A &gt; G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2020· 10 citedOpen Access
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
Human Mutation·2019· 5 citedOpen Access
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Frequent Co-authors

Marco Castori(22), Lucia Micale(21), Carmela Fusco(21), Silvia Morlino(11), Antonio Petracca(7), Vito Guarnieri(6), Davide Cacchiarelli(6), Tommaso Biagini(5), Leonardo D’Agruma(5), Massimiliano Copetti(5), Maria Pia Leone(5), Massimo Carella(4), Stefano Castellana(4), Paola Grammatico(4), Orazio Palumbo(4), Lorenzo Vaccaro(4), Pietro Palumbo(3), Annalisa Schirizzi(3), Antonio Novelli(3), Luigi Bisceglia(3)