Author

Mark Stevenson

National Institute for Health and Care ResearchORCID 0000-0001-8616-0205Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Asha L. Bayliss· 2 shared Fadil M. HannaniD· 2 shared Kreepa G. KooblalliD· 2 shared Rajesh V. ThakkeriD· 2 shared Victoria J. StokesiD· 2 shared Abigail TurnwaldiD· 1 shared Adeline JacquinetiD· 1 shared Alexia BourgoisiD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Asha L. Bayliss

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 22, 2024

Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

1 citation

humanstatistical model

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GeneticsbioRxivPreprintAug 10, 2020

Ap2s1 mutation in mice causes familial hypocalciuric hypercalcemia type 3

Fadil M. Hannan, Mark Stevenson, Asha L. Bayliss…·Rajesh V. Thakker

This study creates a mouse model with an AP2S1 mutation causing FHH3, showing hypercalcemia and demonstrating cinacalcet's effect on calcium levels.

DOI 10.1101/2020.08.10.244244

mouseexperimental assay

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