Author

Julia Forkgen

Garvan Institute of Medical ResearchORCID 0009-0009-5907-7751Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:deconvolution· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Assay:long-read sequencing· 1 Organism:mouse· 1

Frequent Co-Authors

Alex William HewittiD· 1 shared Amr H. AbdeeniD· 1 shared Andre L. M. ReisiD· 1 shared Anne A. Li· 1 shared Benjamin Darcy RowlandsiD· 1 shared Benjamin Guy TristiD· 1 shared Bernadeth AntonioiD· 1 shared Brynn Kevin WainsteiniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alex William HewittORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 8, 2025

Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing

Yves Fontaine, Shreegowri Aradhya, Shannon Ji…·Owen M. Siggs

This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.

DOI 10.1101/2025.05.08.25327265

humanlong-read sequencing

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NeurosciencebioRxivPreprintOct 29, 2024

Impaired maturation of wild-type superoxide dismutase 1 associated with neurodegeneration in Parkinson disease brain and a novel murine model

Amr H. Abdeen, Benjamin Guy Trist, Sara Nikseresht…·Kay L. Double

The paper investigates wild-type SOD1 misfolding in Parkinson's disease using proteomics and a novel mouse model, showing mismetallation and altered post-translational modifications contribute to pathology and dopamine neuron degeneration.

DOI 10.1101/2024.10.29.620972

mouseproteomics

𝕏 PostBluesky