Author

Renee Lin

UCL Queen Square Institute of Neurology

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

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:zebrafish· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Annarita ScardamagliaiD· 2 shared Giovanni ZifarelliiD· 2 shared Henry HouldeniD· 2 shared Javeria Raza AlviiD· 2 shared Reza MaroofianiD· 2 shared Stéphanie EfthymiouiD· 2 shared Tipu SultaniD· 2 shared Valentina Turchetti· 2 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Annarita ScardamagliaORCID

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2 papers

Recent·Most cited

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Lin, J. Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Curró, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, , Henry Houlden

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

medRxiv · May 10, 2024 · PreprintGenetic & Genomic Medicine