All Stories

  1. Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation

    Article • Pediatric Diabetes, February 2018, Wiley

    Dr Robert K Semple

  2. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Article • Human Mutation, June 2017, Wiley

    Professor Vallo Tillmann, Dr Robert K Semple, Julia Rohayem, Full professor virginia nunes

  3. Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

    Article • European Journal of Endocrinology, May 2017, Bioscientifica

    Dr Robert K Semple

  4. Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2017, Endocrine Society

    Dr Robert K Semple, stephen O'Rahilly

  5. Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

    Article • Molecular Genetics & Genomic Medicine, May 2017, Wiley

    Dr Robert K Semple

  6. Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome

    Article • Pediatric Diabetes, December 2016, Wiley

    Dr Robert K Semple, Dr Eirini Kostopoulou

  7. A method for increasing confidence in diagnosis of clinically important anti-insulin antibodies

    Article • Clinical Endocrinology, October 2016, Wiley

    Dr Robert K Semple

  8. Truncation of POC1A associated with short stature and extreme insulin resistance

    Article • September 2015, Bioscientifica

    Dr Robert K Semple

  9. GENETICS IN ENDOCRINOLOGY: Genetic forms of severe insulin resistance: what endocrinologists should know

    Article • July 2013, Bioscientifica

    Dr Robert K Semple

  10. Genetic Syndromes of Severe Insulin Resistance

    Article • Endocrine Reviews, August 2011, Endocrine Society

    Dr Robert K Semple

  11. A Dominant Negative Human Peroxisome Proliferator-Activated Receptor (PPAR)α Is a Constitutive Transcriptional Corepressor and Inhibits Signaling through All PPAR Isoforms

    Article • Endocrinology, April 2005, Endocrine Society

    Dr Robert K Semple