Author

Jonathan G.L. Mullins

Swansea UniversityORCID 0000-0003-0144-2962Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adam T. HigginsiD· 2 shared Anna V. Derrick· 2 shared Jeffrey S. DaviesiD· 2 shared Karl Austin‐MuttittiD· 2 shared Seo‐Kyung ChungiD· 2 shared Abhijit DixitiD· 1 shared Adam G Thomas· 1 shared Alison KrausiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adam T. HigginsORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

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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NeuroscienceMolecular MetabolismPeer-reviewedSep 3, 2024

Hunger signalling in the olfactory bulb primes exploration, food-seeking and peripheral metabolism.

Romana Stark, Harry Dempsey, Elizabeth A. Kleeman…·Zane Bruce Andrews

This study shows that GHSRs in the olfactory bulb link hunger to olfactory sensitivity, affecting food-seeking and metabolism in mice.

15 citationstop 4%

mouseexperimental assay

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