Author

Adam T. Higgins

Swansea UniversityORCID 0000-0002-2906-8151Unclaimed 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· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Seo‐Kyung ChungiD· 3 shared Anna V. Derrick· 2 shared Jonathan G.L. MullinsiD· 2 shared Mark I. ReesiD· 2 shared William Owen PickrelliD· 2 shared Abhijit DixitiD· 1 shared Adam G Thomas· 1 shared Alison KrausiD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Seo‐Kyung ChungORCID

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3 papers

Recent·Most cited

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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