Author

Samuel Neaves

University of BristolORCID 0000-0002-4064-3794Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexander MörseburgiD· 1 shared Alice WilliamsoniD· 1 shared Audrey MelviniD· 1 shared Brian LamiD· 1 shared Chen ZhangiD· 1 shared David A. HughesiD· 1 shared Giles S.H. YeoiD· 1 shared I. Sadaf FarooqiiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander MörseburgORCID

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1 paper

Recent·Most cited

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, Warren W. Pan, Laura J. Corbin, David A. Hughes, Kara Rainbow, Jianhua Chen, Katie Duckett, Xiaoming Liu, Jacek Mokrosiński, Alexander Mörseburg, Samuel Neaves, Alice Williamson, Chen Zhang, , 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.

Nature Medicine · May 27, 2021Peer-reviewedGenetic & Genomic Medicine