World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
67
Citations
19358
World Ranking
8109
National Ranking
626

Research.com Recognitions

  • 1956 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Robert K. Semple is affiliated with the University of Edinburgh in the United Kingdom. Their research primarily focuses on biochemistry, genetics, and molecular biology, with substantial contributions also in the field of medicine. Their work spans several subfields, including molecular biology, genetics, surgery, physiology, and endocrinology, diabetes, and metabolism.

The scientist's recent publications demonstrate engagement with topics in cancer surveillance, genetic studies, diabetes, and rare disease treatments. Selected recent papers include:

  • Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome, 2020, European Journal of Human Genetics
  • Genome-Wide Association Study of NAFLD Using Electronic Health Records, 2021, Hepatology Communications
  • ENDOCRINOLOGY IN THE TIME OF COVID-19: Remodelling diabetes services and emerging innovation, 2020, European Journal of Endocrinology
  • Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome, 2021, Orphanet Journal of Rare Diseases
  • Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth, 2021, Genetics in Medicine

Frequent co-authors include:

  • Ineke Luijten (13 co-authored works)
  • Gemma V. Brierley (10 co-authored works)
  • Eleanor J. McKay (9 co-authored works)
  • David B. Savage (8 co-authored works)
  • Rachel Knox (7 co-authored works)

The primary publication venues where Robert K. Semple frequently publishes are:

  • bioRxiv (Cold Spring Harbor Laboratory) with 16 publications
  • European Journal of Endocrinology with 5 publications
  • Genetics in Medicine with 5 publications
  • Endocrine Abstracts with 5 publications
  • The Journal of Clinical Endocrinology & Metabolism with 4 publications

The main topics addressed in Semple's research include:

  • Nuclear Structure and Function
  • Pancreatic function and diabetes
  • Metabolism, Diabetes, and Cancer
  • Adipose Tissue and Metabolism
  • Diabetes and associated disorders
  • PI3K/AKT/mTOR signaling in cancer
  • Mitochondrial Function and Pathology

Robert K. Semple has been recognized as a Fellow of the American Association for the Advancement of Science (AAAS), an award received in 1956. This distinction reflects their longstanding involvement in scientific research and contribution to the advancement of science.

Best Publications

  • PPARγ and human metabolic disease

    Robert K. Semple;V. Krishna K. Chatterjee;Stephen O’Rahilly

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

    A Kemal Topaloglu;Frank Reimann;Metin Guclu;Ayse Serap Yalin

  • Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells

    S. Tamir Rashid;Sebastien Corbineau;Nick Hannan;Stefan J. Marciniak

  • 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;Hivert M-F.;Hivert M-F.;N Timpson;Perry Jrb.;Perry Jrb.

  • Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

    Luca A Lotta;Pawan Gulati;Felix R Day;Felicity Payne

  • PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    Kim M. Keppler-Noreuil;Jonathan J. Rios;Victoria E.R. Parker;Robert K. Semple

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

    Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  • Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

    C. A. Kim;Marc Delépine;Emilie Boutet;Haquima El Mourabit

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

    Tuomas O Kilpeläinen;M Carola Zillikens;Alena Stančákova;Francis M Finucane

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

  • Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

    Robert K. Semple;Alison Sleigh;Peter R. Murgatroyd;Claire A. Adams

  • Genetic syndromes of severe insulin resistance

    Robert K. Semple;David B. Savage;Elaine K. Cochran;Phillip Gorden

  • Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

    R. K. Semple;J. C. Achermann;J. Ellery;I. S. Farooqi

  • Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

    Marjorie J Lindhurst;Victoria E R Parker;Felicity Payne;Julie C Sapp

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

    Erik Schoenmakers;Maura Agostini;Catherine Mitchell;Nadia Schoenmakers

  • Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

    Sheetal Gandotra;Caroline Le Dour;William Bottomley;Pascale Cervera

  • Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

    Kim M Keppler-Noreuil;Julie C Sapp;Marjorie J Lindhurst;Victoria Er Parker

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

    Tuomas O. Kilpelainen;M. Carola Zillikens;Alena Stancakova;Francis M. Finucane

Frequent Co-Authors

Stephen O'Rahilly
Stephen O'Rahilly University of Cambridge
Inês Barroso
Inês Barroso University of Exeter
Nicholas J. Wareham
Nicholas J. Wareham University of Cambridge
Claudia Langenberg
Claudia Langenberg Queen Mary University of London
Jian'an Luan
Jian'an Luan University of Cambridge
Bart Vanhaesebroeck
Bart Vanhaesebroeck University College London
Phillip Gorden
Phillip Gorden National Institutes of Health
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health
Tim D. Spector
Tim D. Spector King's College London

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