Author

Anna V. Derrick

Swansea University

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Seo‐Kyung ChungiD· 3 shared Adam T. HigginsiD· 2 shared Jonathan G.L. MullinsiD· 2 shared Mark I. ReesiD· 2 shared Mohnish SuriiD· 2 shared Abhijit DixitiD· 1 shared Abolfazl RadiD· 1 shared Adam G Thomas· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Seo‐Kyung ChungORCID

Mutual co-authors in cluster

Author profile →

3 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

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, Ed Dudley, Adam T. Higgins, Charlotte A. Jones, Anna V. Derrick, Jeffrey S. Davies, William Owen Pickrell, Susannah T. Bellows, Robert J. Harvey, Peter Bergin, Jonathan G.L. Mullins, Ingrid Eileen Scheffer, Samuel Frank Berkovic, 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.

medRxiv · Apr 1, 2025 · PreprintGenetic & Genomic Medicine

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

James Fasham, Rucha Pandit, Adam T. Higgins, Dowon Kim, Karl Austin‐Muttitt, Anna V. Derrick, Robert Gunn, Maya Matty, Nicola Ragge, Kate Chandler, Gabriela E. Jones, Mohnish Suri, Alison Kraus, Tabib A. Dabir, Katrina Stone, , Abhijit Dixit

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

medRxiv · Mar 28, 2025 · PreprintGenetic & Genomic Medicine