Alfredo Brusco

机构：CTO Hospital, Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, Department of Medical Sciences, Torino e-district, University of Turin

发表论文 349 篇 · 总被引 12973 次 · h-index 46

代表论文

• The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders (2025 · Molecular Genetics and Metabolism · 被引 20)
• Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia (2024 · Journal of Clinical Immunology · 被引 16)
• Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus (2024 · The American Journal of Human Genetics · 被引 10)
• Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease (2025 · Alzheimer s Research & Therapy · 被引 9)
• Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder (2024 · Genetics in Medicine · 被引 7)
• Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy (2024 · Genetics in Medicine · 被引 6)