Lucia Micale

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index10.7kcitations99works0.92yr avg
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Research Topics

Connective tissue disorders research(15), Genomics and Rare Diseases(12), Williams Syndrome Research(10), Ubiquitin and proteasome pathways(9), Genomic variations and chromosomal abnormalities(8)

Publications93 total

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype–Phenotype Correlations in Italian Hypophosphatasia Patients
Cells·2025Open Access
Integrated Genomic Approach: A Five Exon Intragenic Deletion in <scp> <i>UNC80</i> </scp> Combines With a Novel Splice Variant to Cause <scp>IHPRF2</scp> Syndrome in an Italian Family
American Journal of Medical Genetics Part A·2025Open Access
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·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
Whole Blood Multi‐<scp>OMIC</scp> Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in <scp><i>PLOD1</i></scp>‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome
American Journal of Medical Genetics Part A·2025Open Access
Use of Oral Anti-Xa Inhibitor in Prosthetic Mechanical Aortic Valve with Warfarin Hypersensitivity Due to the FIX p.(Ala37Thr) Propeptide Variant: Case Report and Literature Review
Seminars in Thrombosis and Hemostasis·2025· 1 cited
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
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features
Genes·2024· 5 citedOpen Access
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
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages
Cell Death and Disease·2023· 29 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
Supplementary Figure s1 from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Supplementary Figure s1 from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Supplementary Table s1 from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Supplementary Table s1 from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Data from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Data from AQP4 Aggregation State Is a Determinant for Glioma Cell Fate
2023Open Access
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
European Journal of Human Genetics·2023· 10 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
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Frequent Co-authors

Giuseppe Merla(32), Carmela Fusco(29), Bartolomeo Augello(23), Marco Castori(15), Alexandre Reymond(8), Barbara Mandriani(8), Tommaso Mazza(8), Silvia Morlino(7), Paola Grammatico(7), Grazia Nardella(7), Orazio Palumbo(6), Maria Teresa Pellico(6), Leopoldo Zelante(6), Dario Cocciadiferro(6), Massimo Carella(5), Elisa Biamino(5), Paolo Prontera(5), Pasquelena De Nittis(5), Antonio Novelli(5), Angelo Selicorni(4)