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Thomsen SK
Thomsen SK
Verified email at stx.ox.ac.uk
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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
KJ Gaulton, T Ferreira, Y Lee, A Raimondo, R Mägi, ME Reschen, ...
Nature genetics 47 (12), 1415-1425, 2015
4082015
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion
OP Dwivedi, M Lehtovirta, B Hastoy, V Chandra, NAJ Krentz, S Kleiner, ...
Nature genetics 51 (11), 1596-1606, 2019
1122019
Systematic functional characterization of candidate causal genes for type 2 diabetes risk variants
SK Thomsen, A Ceroni, M van de Bunt, C Burrows, A Barrett, ...
Diabetes 65 (12), 3805-3811, 2016
912016
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells
SK Thomsen, A Raimondo, B Hastoy, S Sengupta, XQ Dai, A Bautista, ...
Nature genetics 50 (8), 1122-1131, 2018
722018
DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
KJ Gaulton, T Ferreira, Y Lee, A Raimondo, R Mägi, ME Reschen, ...
Nat Genet 47 (12), 1415-1425, 2015
692015
Loss-of-function mutations in the cell-cycle control gene CDKN2A impact on glucose homeostasis in humans
A Pal, TP Potjer, SK Thomsen, HJ Ng, A Barrett, R Scharfmann, TJ James, ...
Diabetes 65 (2), 527-533, 2016
532016
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ...
Human molecular genetics 23 (24), 6432-6440, 2014
532014
The pancreatic β cell: recent insights from human genetics
SK Thomsen, AL Gloyn
Trends in Endocrinology & Metabolism 25 (8), 425-434, 2014
422014
Prioritising causal genes at type 2 diabetes risk loci
AK Grotz, AL Gloyn, SK Thomsen
Current diabetes reports 17, 1-9, 2017
382017
Human genetics as a model for target validation: finding new therapies for diabetes
SK Thomsen, AL Gloyn
Diabetologia 60 (6), 960-970, 2017
232017
A genome-wide CRISPR screen identifies CALCOCO2 as a regulator of beta cell function influencing type 2 diabetes risk
AK Rottner, Y Ye, E Navarro-Guerrero, V Rajesh, A Pollner, RJ Bevacqua, ...
Nature Genetics 55 (1), 54-65, 2023
102023
Tissue-specific alteration of metabolic pathways influences glycemic regulation
NHJ Ng, SM Willems, J Fernandez, RS Fine, E Wheeler, J Wessel, ...
BioRxiv, 790618, 2019
92019
A genome-wide CRISPR screen identifies regulators of beta cell function involved in type 2 diabetes risk
AK Grotz, E Navarro-Guerrero, RJ Bevacqua, R Baronio, SK Thomsen, ...
bioRxiv, 2021.05. 28.445984, 2021
82021
Device for sampling gastro-intestinal material
S Rees, L Ashton, C Iveson, A Chomka, S Thomsen, NHJ Ng, P Albers, ...
US Patent 11,937,791, 2024
52024
Type 2 diabetes risk alleles reveal a role for peptidylglycine alpha-amidating monooxygenase in beta cell function
A Raimondo, SK Thomsen, B Hastoy, MM Umapathysivam, XQ Dai, ...
bioRxiv, 158642, 2017
52017
Keys to the kingdom
SCK Wong, LS Sasportas, K Richardson, BR Gordon, MKP Jayatunga, ...
Nature Biotechnology 33 (3), 232-236, 2015
42015
The importance of context: uncovering species-and tissue-specific effects of genetic risk variants for type 2 diabetes
SK Thomsen, MI McCarthy, AL Gloyn
Frontiers in Endocrinology 7, 206001, 2016
32016
Type 2 diabetes risk alleles in peptidyl-glycine alpha-amidating monooxygenase influence GLP-1 levels and response to GLP-1 receptor agonists
MM Umapathysivam, E Araldi, B Hastoy, AY Dawed, H Vatandaslar, ...
medRxiv, 2023
22023
International NDMC.(2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood‐onset diabetes is primarily mediated through effects on protein stability
A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ...
Human Molecular Genetics 23, 6432-6440, 0
2
Identifying causal mechanisms for beta cell dysfunction at type 2 diabetes risk loci
S Thomsen
University of Oxford, 2017
2017
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