Author

Anna Maria Siegert

University of Cambridge

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Brian LamiD· 1 shared Danish SaleheeniD· 1 shared Dirk S. PauliD· 1 shared Eugene J. GardneriD· 1 shared Felix R. DayiD· 1 shared Florian T. MerkleiD· 1 shared Georgina K.C. DowsettiD· 1 shared Giles S.H. YeoiD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Brian LamORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 14, 2023

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Yajie Zhao, Maria Chukanova, Katherine A. Kentistou…·John R. B. Perry

The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

1 citation

humanwhole-exome sequencing