Author

Mark I. Rees

The University of SydneyORCID 0000-0003-3570-5986Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Seo‐Kyung ChungiD· 3 shared Adam T. HigginsiD· 2 shared Anna V. Derrick· 2 shared Ingrid Eileen SchefferiD· 2 shared Samuel Frank BerkoviciD· 2 shared William Owen PickrelliD· 2 shared Abolfazl RadiD· 1 shared Aleksei RakitiniD· 1 shared

Activity by Year

2025-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Seo‐Kyung ChungORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNeurologyPeer-reviewedJan 14, 2026

Transcription factor binding and individual genetic risk for valproate teratogenicity

Alison Anderson, Piero Perucca, Elena Vianca…·Sameer M. Zuberi

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

3 citationstop 1%

humanwhole-exome sequencing

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 16, 2025

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

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu

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

12 citations

humanzebrafish

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Genetic & Genomic MedicinemedRxivPreprintApr 5, 2025

A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns

Adam T. Higgins, Fiona Wang, William Owen Pickrell…·Seo‐Kyung Chung

This paper identifies a synonymous SLC2A1 variant causing GLUT1-DS through mosaic splicing, leading to variable haploinsufficiency and phenotypic diversity.

DOI 10.1101/2025.04.05.25325007

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintApr 1, 2025

Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes

Seo‐Kyung Chung, Kate V. Everett, Rhys Huw Thomas…·Mark I. Rees

The paper identifies ultra-rare variants in GABAergic genes associated with genetic generalized epilepsy syndromes and links their functional impact to epilepsy severity.

DOI 10.1101/2025.04.01.24316792

humanwhole-exome sequencing

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