Adriana Rebelo

机构：University of Miami, Palo Alto University, University of Miami Hospital, Dr. John T. Macdonald Foundation · ORCID：0000-0001-5669-7415

发表论文 97 篇 · 总被引 3411 次 · h-index 30

代表论文

• A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus (2024 · Nature Genetics · 被引 34)
• Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 (2024 · EBioMedicine · 被引 12)
• An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser (2025 · Genome Medicine · 被引 10)
• Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia (2024 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 被引 10)
• SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights (2024 · Brain · 被引 10)
• Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD (2025 · Brain · 被引 9)