Robert K. Semple
Robert K. Semple
Professor of Translational Molecular Medicine
Verified email at ed.ac.uk - Homepage
Title
Cited by
Cited by
Year
PPARγ and human metabolic disease
RK Semple, VKK Chatterjee, S O’Rahilly
The Journal of clinical investigation 116 (3), 581-589, 2006
9812006
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
7822009
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
5932010
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 Genet 8 (3), e1002607, 2012
4022012
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
3712008
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
3492008
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
3122005
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
3092009
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
3082011
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
2552017
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
2412015
Genetic syndromes of severe insulin resistance
RK Semple, DB Savage, EK Cochran, P Gorden, S O'Rahilly
Endocrine reviews 32 (4), 498-514, 2011
2382011
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
2362012
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
2292010
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), 1-9, 2015
2232015
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
2232007
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
2222011
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
2222009
Expression of the thermogenic nuclear hormone receptor coactivator PGC-1 α is reduced in the adipose tissue of morbidly obese subjects
RK Semple, VC Crowley, CP Sewter, M Laudes, C Christodoulides, ...
International journal of obesity 28 (1), 176-179, 2004
2052004
Autoimmune forms of hypoglycemia
BC Lupsa, AY Chong, EK Cochran, MA Soos, RK Semple, P Gorden
Medicine 88 (3), 141-153, 2009
1882009
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