Alessandro De Luca

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

45h-index7.7kcitations198works1.62yr avg
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Research Topics

Protein Tyrosine Phosphatases(37), Neurofibromatosis and Schwannoma Cases(27), Galectins and Cancer Biology(22), Congenital heart defects research(18), Genetic Neurodegenerative Diseases(14)

Publications192 total

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
The Breast·2025Open Access
Multidisciplinary Treatment of Patients With Noonan Syndrome
JAMA Network Open·2025· 1 citedOpen Access
Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome
2025Open Access
Primary ciliary dyskinesia: analysis of symptoms at diagnosis according to genetic defect
2025
Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Stem Cell Research·2025Open Access
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
UNC Libraries·2025Open Access
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
2025Open Access
AN UNUSUAL CASE OF RIGHT BUNDLE BRANCH BLOCK: THE IMPORTANCE OF AN ACCURATE ELECTROCARDIOGRAPHIC ANALYSIS IN THE DIAGNOSTIC DEFINITION
European Heart Journal Supplements·2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation
Stem Cell Research·2025Open Access
Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia
Pediatric Pulmonology·2025· 3 cited
Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding—A Comprehensive Review
Diagnostics·2025· 2 citedOpen Access
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
Genes·2024· 2 citedOpen Access
Time-dependent networks for the treatment of acute coronary syndrome in South East Tuscany
European Journal of Public Health·2024Open Access
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Stem Cell Research·2024Open Access
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Genetics in Medicine·2024· 4 citedOpen Access
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
European Journal of Human Genetics·2024· 11 cited
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
European Journal of Human Genetics·2024· 8 cited
Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease
Biomedicines·2024· 1 citedOpen Access
THE HEART‘S ABILITY TO "SELF–DEFIBRILLATE": A SPECIAL CASE OF IDIOPATHIC VENTRICULAR TACHYCARDIA
European Heart Journal Supplements·2024Open Access
Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease
Preprints.org·2024· 1 citedOpen Access
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Frequent Co-authors

Bruno Dallapiccola(29), M. Cristina Digilio(15), Marco Tartaglia(15), Francesca Romana Lepri(11), Federica Consoli(11), Bruno Marino(10), Giuseppe Zampino(9), Bruce D. Gelb(9), Valentina Guida(8), Simone Martinelli(7), Cesare Rossi(7), Martin Zenker(7), Francesca Pantaleoni(7), Rosangela Ferese(7), Isabella Torrente(6), Emanuele Bellacchio(5), Luca Pannone(5), Lorenzo Stella(5), Paola Daniele(5), Andrea Ciolfi(5)