Semple, Robert K.

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for neurokinin B in the central control of reproduction

Topaloglu, A. K., Reimann, F., Guclu, M., Yalin, A. S., Kotan, L. D., Porter, K. M., Serin, A., Mungan, N. O., Cook, J. R., Ozbek, M. N., et al. (2009) · Nature Genetics

Hypothalamic control of reproductive hormonesNeuropeptides and Animal Physiology

Cited by 961

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

Kilpeläinen, T. O., Zillikens, M. C., Stančákova, A., Finucane, F. M., Ried, J. S., Langenberg, C., Zhang, W., Beckmann, J. S., Luan, J., Vandenput, L., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 335

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Schoenmakers, E., Agostini, M., Mitchell, C., Schoenmakers, N., Papp, L., Rajanayagam, O., Padidela, R., Ceron-Gutierrez, L., Doffinger, R., Prevosto, C., et al. (2010) · Journal of Clinical Investigation

Selenium in Biological SystemsOrganoselenium and organotellurium chemistry

Cited by 315

Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., & Aparicio, S. A. (2005) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGrowth Hormone and Insulin-like Growth Factors

Cited by 291

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders

Madsen, R. R., Vanhaesebroeck, B., & Semple, R. K. (2018) · Trends in Molecular Medicine

PI3K/AKT/mTOR signaling in cancerVascular Malformations and Hemangiomas

Cited by 276

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

AKR1C3-mediated adipose androgen generation drives lipotoxicity in women with polycystic ovary syndrome

O’Reilly, M. W., Kempegowda, P., Walsh, M., Taylor, A. E., Manolopoulos, K. N., Allwood, J. W., Semple, R. K., Hebenstreit, D., Dunn, W. B., Tomlinson, J. W., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism

Ovarian function and disordersAdipokines, Inflammation, and Metabolic Diseases

Cited by 215

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

Semple, R. K., Crowley, V. C., Sewter, C. P., Laudes, M., Christodoulides, C., Considine, R. V., Vidal-Puig, A., & O'Rahilly, S. (2004) · International Journal of Obesity

Adipose Tissue and MetabolismPeroxisome Proliferator-Activated Receptors

Cited by 203

The recent genetics of hypogonadotrophic hypogonadism—novel insights and new questions

Semple, R. K., & Topaloglu, A. K. (2010) · Clinical Endocrinology

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 117

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis

Takele, W. W., Vesco, K. K., Josefson, J., Redman, L. M., Hannah, W., Bonham, M. P., Chen, M., Chivers, S. C., Fawcett, A. J., Grieger, J. A., et al. (2024) · Communications Medicine

Gestational Diabetes Research and ManagementDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 55

Neurokinin B signalling in the human reproductive axis

Topaloglu, A. K., & Semple, R. K. (2011) · Molecular and Cellular Endocrinology

Hypothalamic control of reproductive hormonesNeuropeptides and Animal Physiology

Cited by 41

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance

Aslanzadeh, V., Brierley, G. V., Kumar, R., Çubuk, H., Vigouroux, C., Matreyek, K. A., Kudla, G., & Semple, R. K. (2025) · Nature Communications

Genomics and Rare DiseasesPancreatic function and diabetes

Cited by 15

Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant

Tomlinson, P. R., Knox, R. G., Perisic, O., Su, H., Brierley, G. V., Williams, R. L., & Semple, R. K. (2025) · eLife

Immunodeficiency and Autoimmune DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 2

Massively parallel functional genomic assays in endocrinology: from promise to delivery

Xu, J., Aslanzadeh, V., Kudla, G., & Semple, R. K. (2026) · Journal of Molecular Endocrinology

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 0