Author

Alexander Mörseburg

University of CambridgeORCID 0000-0003-4832-4007Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Stephen O’RahillyiD· 3 shared Audrey MelviniD· 2 shared Brian LamiD· 2 shared Giles S.H. YeoiD· 2 shared Kara RainbowiD· 2 shared Katie DuckettiD· 2 shared Albert KoulmaniD· 1 shared Alessandra FerrariiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Stephen O’RahillyORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintApr 28, 2024

Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health

Sam M. Lockhart, Milan Mušo, Ilona Zvetkova…·Stephen O’Rahilly

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

1 citation

humanmouse

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Genetic & Genomic MedicineThe Journal of Applied Laboratory MedicinePeer-reviewedJul 7, 2022

The common H202D variant in GDF-15 does not affect its bioactivity but can significantly interfere with measurement of its circulating levels

Yanislava Karusheva, Matthew Ratcliff, Alexander Mörseburg…·Stephen O’Rahilly

The study shows that the H202D variant in GDF-15 does not affect its bioactivity but causes underreporting in R&D immunoassays, with correction equations provided.

36 citationstop 3%

humanproteomics

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Genetic & Genomic MedicineNature MedicinePeer-reviewedMay 27, 2021

Prevalence and expressivity of loss of function mutations in the Melanocortin 4 Receptor (MC4R) in a UK birth cohort

Kaitlin Hazel Wade, Brian Lam, Audrey Melvin…·Stephen O’Rahilly

The paper identifies the prevalence and phenotypic impact of loss of function mutations in the MC4R gene in a UK birth cohort, finding a 0.30% carrier rate with significant effects on body weight and BMI.

134 citationstop 1%

humanstatistical model

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