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Authors: Stephen O’Rahilly
Journal Article
Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study Open Access
The Journal of Clinical Endocrinology & Metabolism, dgaf132, https://doi.org/10.1210/clinem/dgaf132
Published: 28 February 2025
Journal Article
EDITOR'S CHOICE
GDF15 antagonism limits severe heart failure and prevents cardiac cachexia Open Access
Cardiovascular Research, Volume 120, Issue 17, December 2024, Pages 2249–2260, https://doi.org/10.1093/cvr/cvae214
Published: 23 September 2024
Journal Article
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 108, Issue 12, December 2023, Pages e1580–e1587, https://doi.org/10.1210/clinem/dgad373
Published: 20 June 2023
Journal Article
The Common H202D Variant in GDF-15 Does Not Affect Its Bioactivity but Can Significantly Interfere with Measurement of Its Circulating Levels Open Access
The Journal of Applied Laboratory Medicine, Volume 7, Issue 6, November 2022, Pages 1388–1400, https://doi.org/10.1093/jalm/jfac055
Published: 07 July 2022
Journal Article
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 4, April 2022, Pages 1065–1077, https://doi.org/10.1210/clinem/dgab877
Published: 07 December 2021
Journal Article
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 8, August 2021, Pages 2367–2383, https://doi.org/10.1210/clinem/dgab275
Published: 26 April 2021
Journal Article
Leptin-Mediated Changes in the Human Metabolome Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 8, August 2020, Pages 2541–2552, https://doi.org/10.1210/clinem/dgaa251
Published: 11 May 2020
Journal Article
SUN-LB107 Functional Characterisation of Human Heterozygous Non-Synonymous MC3R Variants Open Access
Journal of the Endocrine Society, Volume 4, Issue Supplement_1, April-May 2020, SUN-LB107, https://doi.org/10.1210/jendso/bvaa046.2097
Published: 08 May 2020
Journal Article
GDF15: A Hormone Conveying Somatic Distress to the Brain Open Access
Endocrine Reviews, Volume 41, Issue 4, August 2020, bnaa007, https://doi.org/10.1210/endrev/bnaa007
Published: 20 April 2020
Journal Article
GDF15 Is Elevated in Conditions of Glucocorticoid Deficiency and Is Modulated by Glucocorticoid Replacement Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 5, May 2020, Pages 1427–1434, https://doi.org/10.1210/clinem/dgz277
Published: 19 December 2019
Journal Article
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 2, February 2018, Pages 649–659, https://doi.org/10.1210/jc.2017-02147
Published: 16 November 2017
Journal Article
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase Open Access
European Journal of Endocrinology, Volume 177, Issue 2, Aug 2017, Pages 175–186, https://doi.org/10.1530/EJE-17-0132
Published: 01 August 2017
Journal Article
EDITOR'S CHOICE
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1 Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 10, 1 October 2017, Pages 3616–3620, https://doi.org/10.1210/jc.2017-01235
Published: 26 July 2017
Journal Article
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 8, 1 August 2017, Pages 2914–2921, https://doi.org/10.1210/jc.2017-00768
Published: 23 May 2017
Journal Article
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders Free
Endocrine Reviews, Volume 37, Issue 4, 1 August 2016, Pages 347–371, https://doi.org/10.1210/er.2015-1117
Published: 17 May 2016
Journal Article
Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 10, 1 October 2014, Pages E2101–E2106, https://doi.org/10.1210/jc.2014-1651
Published: 01 October 2014
Journal Article
Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1 Open Access
Endocrinology, Volume 155, Issue 9, 1 September 2014, Pages 3219–3226, https://doi.org/10.1210/en.2014-1264
Published: 01 September 2014
Journal Article
Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy Open Access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 3, 1 March 2012, Pages E438–E442, https://doi.org/10.1210/jc.2011-2587
Published: 01 March 2012
Journal Article
Genetic Syndromes of Severe Insulin Resistance Get access
Endocrine Reviews, Volume 32, Issue 4, 1 August 2011, Pages 498–514, https://doi.org/10.1210/er.2010-0020
Published: 01 August 2011
Journal Article
Loss of Agouti-Related Peptide Does Not Significantly Impact the Phenotype of Murine POMC Deficiency Open Access
Endocrinology, Volume 152, Issue 5, 1 May 2011, Pages 1819–1828, https://doi.org/10.1210/en.2010-1450
Published: 01 May 2011
