Author

William Owen Pickrell

Swansea UniversityORCID 0000-0003-4396-5657Unclaimed 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· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Assay:metabolomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adam T. HigginsiD· 2 shared Mark I. ReesiD· 2 shared Seo‐Kyung ChungiD· 2 shared A. A. M. MorrisiD· 1 shared Ann J. Johnston· 1 shared Anna V. Derrick· 1 shared Arunabha GhoshiD· 1 shared Belén González‐HerreroiD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adam T. HigginsORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 23, 2025

Rare Cholesterol Related Disorders: A Sterolomic Library for Diagnosis and Monitoring of Diseases

Mohsen Ali Asgari, Eylan Yutuc, Jonas Abdel‐Khalik…·Yuqin Wang

The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.

1 citation

humanmetabolomics

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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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