Author

Audrey Melvin

University of CambridgeORCID 0000-0002-9582-8454Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Assay:proteomics· 1

Frequent Co-Authors

Alexander MörseburgiD· 2 shared Stephen O’RahillyiD· 2 shared Alice WilliamsoniD· 1 shared Anna BackmarkiD· 1 shared Brian LamiD· 1 shared Chen ZhangiD· 1 shared David A. HughesiD· 1 shared Esther Guiu‐JuradoiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander MörseburgORCID

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2 papers

Recent·Most cited

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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