Author

Seo‐Kyung Chung

The University of SydneyORCID 0000-0002-5008-8384Unclaimed 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· 5 Approach:statistical model· 5 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Adam T. HigginsiD· 3 shared Anna V. Derrick· 3 shared Mark I. ReesiD· 3 shared Jonathan G.L. MullinsiD· 2 shared Mohnish SuriiD· 2 shared William Owen PickrelliD· 2 shared Abhijit DixitiD· 1 shared Abolfazl RadiD· 1 shared

Activity by Year

2024-2025 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam T. HigginsORCID

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5 papers

Recent·Most cited

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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Genetic & Genomic MedicinemedRxivPreprintMar 28, 2025

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

James Fasham, Rucha Pandit, Adam T. Higgins…·Abhijit Dixit

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineNature NeurosciencePeer-reviewedOct 1, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

72 citationstop 1%

humanwhole-exome sequencing

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