Author

Georgia MacDonald

Icahn School of Medicine at Mount Sinai

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Organism:human· 1 Assay:metabolomics· 1 Assay:proteomics· 1

Frequent Co-Authors

Éva MoravaiD· 2 shared Rory James TinkeriD· 2 shared Tamás KozicziD· 2 shared Akhilesh PandeyiD· 1 shared Benjamin S Glicksberg· 1 shared Daniel R. SchecteriD· 1 shared Douglas Smith· 1 shared Ethan O. PerlsteiniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Éva MoravaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 30, 2026

ArchSpiral: An iPad-Based Digital Archimedean Spiral Assessment for Objective Motor Evaluation in Rare Diseases

Daniel R. Schecter, Rory James Tinker, Matteo Danieletto…·Benjamin S Glicksberg

ArchSpiral is an iPad app that digitizes a motor assessment task, showing strong agreement with paper-based scores and providing quantitative metrics for rare disease research.

DOI 10.64898/2026.07.27.26358872

experimental assay

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Genetic & Genomic MedicinemedRxivPreprintJun 5, 2026

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

Irena Josephina Johanna Muffels, Kristin A. Kantautas, Georgia MacDonald…·Éva Morava

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

DOI 10.64898/2026.05.28.26354198

humanproteomics

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