Carmela Fusco

Casa Sollievo della Sofferenza — Italy

Medicine · Health Sciences

28h-index10.8kcitations86works1.32yr avg
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Research Topics

Vascular Malformations Diagnosis and Treatment(10), Autoimmune and Inflammatory Disorders Research(10), Williams Syndrome Research(10), Intracranial Aneurysms: Treatment and Complications(9), Connective tissue disorders research(9)

Publications82 total

Decoding a Gut Commensal Signal: Structural and Immunological Profiling of <i>Segatella Copri</i> Lipopolysaccharide
Angewandte Chemie·2025Open Access
Decoding a Gut Commensal Signal: Structural and Immunological Profiling of <i>Segatella Copri</i> Lipopolysaccharide
Angewandte Chemie International Edition·2025· 1 citedOpen Access
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations
Neurology·2025· 1 citedOpen 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
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
Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for <scp>EXT1</scp> and <scp>EXT2</scp> in Hematopoietic Malignancies
American Journal of Medical Genetics Part A·2025· 1 citedOpen Access
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants
Blood·2025· 2 citedOpen Access
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
Vemurafenib combined with cytarabine and cladribine results in clinical efficacy but persistent <i>BRAF</i><sup><i>V600E</i></sup> clone in a newborn affected by high‐risk Langerhans cell histiocytosis
British Journal of Haematology·2024· 1 cited
Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1
Frontiers in Immunology·2024· 1 citedOpen Access
Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry
Haematologica·2024· 4 citedOpen Access
Lifetime Risk for a First Symptomatic ICH or Seizure in Patients with Familial Cerebral Cavernous Malformations (LIFE): A Multicentre Individual Patient Data Analysis
SSRN Electronic Journal·2024Open Access
Biallelic <i>LZTR1</i> variants in a 49‐year‐old woman with hypertrophic cardiomyopathy: A clue for considering <i>LZTR1</i> in adults
American Journal of Medical Genetics Part A·2023Open Access
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
Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients
Blood·2023· 22 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
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Frequent Co-authors

Lucia Micale(33), Giuseppe Merla(25), Bartolomeo Augello(19), Marco Castori(15), Grazia Nardella(9), Alexandre Reymond(7), Barbara Mandriani(6), Maria Teresa Pellico(6), Tommaso Mazza(6), Paolo Prontera(5), Leonardo D’Agruma(5), Stefano Castellana(5), Silvia Morlino(5), Orazio Palumbo(4), Angelo Selicorni(4), Elisa Biamino(4), Leopoldo Zelante(4), Maria Monti(4), Piero Pucci(4), Maurizio Aricò(4)