The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1243 | 2016 |
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 | 590 | 2009 |
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 | 535 | 2014 |
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 | 432 | 2009 |
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 | 411 | 2015 |
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 | 177 | 2014 |
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 | 156 | 2013 |
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 | 118 | 2012 |
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 | 114 | 2015 |
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 | 112 | 2019 |
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 | 92 | 2018 |
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 | 72 | 2018 |
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 | 69 | 2015 |
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 | 52 | 2012 |
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 | 38 | 2011 |
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 | 37 | 2020 |
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 | 32 | 2016 |
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 | 31 | 2017 |
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 | 28 | 2012 |
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 | 26 | 2018 |