| PPARγ and human metabolic disease RK Semple, VKK Chatterjee, S O’Rahilly The Journal of clinical investigation 116 (3), 581-589, 2006 | 1142 | 2006 |
| TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction AK Topaloglu, F Reimann, M Guclu, AS Yalin, LD Kotan, KM Porter, ... Nature genetics 41 (3), 354-358, 2009 | 1046 | 2009 |
| Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells ST Rashid, S Corbineau, N Hannan, SJ Marciniak, E Miranda, ... The Journal of clinical investigation 120 (9), 3127-3136, 2010 | 738 | 2010 |
| Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals Z Dastani, MF Hivert, N Timpson, JRB Perry, X Yuan, RA Scott, ... PLoS genetics 8 (3), e1002607, 2012 | 577 | 2012 |
| Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance LA Lotta, P Gulati, FR Day, F Payne, H Ongen, M Van De Bunt, ... Nature genetics 49 (1), 17-26, 2017 | 571 | 2017 |
| PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation KM Keppler‐Noreuil, JJ Rios, VER Parker, RK Semple, MJ Lindhurst, ... American journal of medical genetics Part A 167 (2), 287-295, 2015 | 550 | 2015 |
| Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ... Science 319 (5864), 816-819, 2008 | 467 | 2008 |
| Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy CA Kim, M Delépine, E Boutet, H El Mourabit, S Le Lay, M Meier, ... The Journal of Clinical Endocrinology & Metabolism 93 (4), 1129-1134, 2008 | 463 | 2008 |
| Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile TO Kilpeläinen, MC Zillikens, A Stančákova, FM Finucane, JS Ried, ... Nature genetics 43 (8), 753-760, 2011 | 435 | 2011 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 434 | 2015 |
| Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis RK Semple, A Sleigh, PR Murgatroyd, CA Adams, L Bluck, S Jackson, ... The Journal of clinical investigation 119 (2), 315-322, 2009 | 404 | 2009 |
| Genetic syndromes of severe insulin resistance RK Semple, DB Savage, EK Cochran, P Gorden, S O'Rahilly Endocrine reviews 32 (4), 498-514, 2011 | 403 | 2011 |
| Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism RK Semple, JC Achermann, J Ellery, IS Farooqi, FE Karet, RG Stanhope, ... The Journal of Clinical Endocrinology & Metabolism 90 (3), 1849-1855, 2005 | 362 | 2005 |
| Perilipin deficiency and autosomal dominant partial lipodystrophy S Gandotra, C Le Dour, W Bottomley, P Cervera, P Giral, Y Reznik, ... New England Journal of Medicine 364 (8), 740-748, 2011 | 342 | 2011 |
| Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans E Schoenmakers, M Agostini, C Mitchell, N Schoenmakers, L Papp, ... The Journal of clinical investigation 120 (12), 4220-4235, 2010 | 331 | 2010 |
| Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA MJ Lindhurst, VER Parker, F Payne, JC Sapp, S Rudge, J Harris, ... Nature genetics 44 (8), 928-933, 2012 | 324 | 2012 |
| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 310 | 2014 |
| Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC O Rubio‐Cabezas, V Puri, I Murano, V Saudek, RK Semple, S Dash, ... EMBO molecular medicine 1 (5), 280-287, 2009 | 299 | 2009 |
| Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy L Al-Olabi, S Polubothu, K Dowsett, KA Andrews, P Stadnik, AP Joseph, ... The Journal of clinical investigation 128 (4), 1496-1508, 2018 | 276 | 2018 |
| Serotonin 2C receptor agonists improve type 2 diabetes via melanocortin-4 receptor signaling pathways L Zhou, GM Sutton, JJ Rochford, RK Semple, DD Lam, LJ Oksanen, ... Cell metabolism 6 (5), 398-405, 2007 | 275 | 2007 |