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Nicola L Beer
Nicola L Beer
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Verified email at novonordisk.com
Title
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Cited by
Year
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12432016
Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
KK Osbak, K Colclough, C Saint‐Martin, NL Beer, C Bellanné‐Chantelot, ...
Human mutation 30 (11), 1512-1526, 2009
5902009
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
J Flannick, G Thorleifsson, NL Beer, SBR Jacobs, N Grarup, NP Burtt, ...
Nature genetics 46 (4), 357-363, 2014
5352014
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in …
NL Beer, ND Tribble, LJ McCulloch, C Roos, PRV Johnson, ...
Human molecular genetics 18 (21), 4081-4088, 2009
4322009
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
4112015
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
AR Majithia, J Flannick, P Shahinian, M Guo, MA Bray, P Fontanillas, ...
Proceedings of the National Academy of Sciences 111 (36), 13127-13132, 2014
1772014
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
J Flannick, NL Beer, AG Bick, V Agarwala, J Molnes, N Gupta, NP Burtt, ...
Nature genetics 45 (11), 1380-1385, 2013
1562013
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk
MG Rees, S Wincovitch, J Schultz, R Waterstradt, NL Beer, S Baltrusch, ...
Diabetologia 55, 114-122, 2012
1182012
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
A Mahajan, X Sim, HJ Ng, A Manning, MA Rivas, HM Highland, AE Locke, ...
PLoS genetics 11 (1), e1004876, 2015
1142015
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
Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling
C Ramond, BS Beydag-Tasöz, A Azad, M van de Bunt, MBK Petersen, ...
Development 145 (16), dev165480, 2018
922018
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
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
MG Rees, D Ng, S Ruppert, C Turner, NL Beer, AJ Swift, MA Morken, ...
The Journal of clinical investigation 122 (1), 205-217, 2012
522012
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans
NL Beer, M van de Bunt, K Colclough, C Lukacs, P Arundel, CL Chik, ...
Journal of Biological Chemistry 286 (21), 19118-19126, 2011
382011
Analysis of differentiation protocols defines a common pancreatic progenitor molecular signature and guides refinement of endocrine differentiation
A Wesolowska-Andersen, RR Jensen, MP Alcántara, NL Beer, C Duff, ...
Stem Cell Reports 14 (1), 138-153, 2020
372020
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model
M van de Bunt, M Lako, A Barrett, AL Gloyn, M Hansson, MI McCarthy, ...
Islets 8 (3), 83-95, 2016
322016
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
J Flannick, C Fuchsberger, A Mahajan, TM Teslovich, V Agarwala, ...
Scientific data 4 (1), 1-22, 2017
312017
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia
L Valentinova, NL Beer, J Stanik, ND Tribble, M van de Bunt, M Hučková, ...
PLoS One 7 (4), e34541, 2012
282012
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs
C Braverman-Gross, N Nudel, D Ronen, NL Beer, MI McCarthy, ...
Stem Cell Research 31, 16-26, 2018
262018
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