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| 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 | 1011 | 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 | 721 | 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 | 559 | 2012 |
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| 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 | 455 | 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 | 451 | 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 | 420 | 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 | 399 | 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 | 387 | 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 | 385 | 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 | 353 | 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 | 321 | 2011 |
| 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 | 317 | 2012 |
| 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 | 316 | 2010 |
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| 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 | 286 | 2009 |
| 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 | 269 | 2007 |
| 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 | 254 | 2018 |
