Robert Semple

Robert Semple

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Robert Semple

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Luminescent peptide tagging enables efficient screening for CRISPR-mediated knock-in in human induced pluripotent stem cells.

Wellcome Open Res 2019 11;4:37. Epub 2019 Jul 11.

Centre for Cardiovascular Science, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, EH16 4TJ, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15119.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6640264PMC
July 2019

Oncogenic promotes cellular stemness in an allele dose-dependent manner.

Proc Natl Acad Sci U S A 2019 Apr 4;116(17):8380-8389. Epub 2019 Apr 4.

Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, United Kingdom;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1821093116
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http://dx.doi.org/10.1073/pnas.1821093116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486754PMC
April 2019

Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study.

Diabetes Care 2018 11 10;41(11):2353-2360. Epub 2018 Sep 10.

Diabetes, Endocrinology and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.

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http://care.diabetesjournals.org/lookup/doi/10.2337/dc18-088
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http://dx.doi.org/10.2337/dc18-0884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196834PMC
November 2018

A case of diencephalic syndrome presenting with isolated lipodystrophy.

Clin Dysmorphol 2018 Oct;27(4):122-125

Manchester Centre for Genomic Medicine, St Mary's Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000235DOI Listing
October 2018

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.

Trends Mol Med 2018 10 6;24(10):856-870. Epub 2018 Sep 6.

Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK; Centre for Cardiovascular Sciences, Queens Medical Research Institute, University of Edinburgh, Little France Crescent, Edinburgh EH16 4TJ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2018.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185869PMC
October 2018

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

J Allergy Clin Immunol 2018 07 6;142(1):311-314.e6. Epub 2018 Mar 6.

Cancer Research UK Cambridge Institute, Cambridge, United Kingdom; Department of Clinical Immunology, Cambridge University Hospitals National Health Service Trust, Addenbrooke's Hospital, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom; MRC Toxicology Unit, University of Leicester, Leicester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.01.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034011PMC
July 2018

Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models.

Diabetologia 2018 07 27;61(7):1662-1675. Epub 2018 Apr 27.

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

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http://dx.doi.org/10.1007/s00125-018-4606-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445487PMC
July 2018

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

Pediatr Diabetes 2018 06 7;19(4):670-674. Epub 2018 Feb 7.

Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1111/pedi.12632DOI Listing
June 2018

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

Pediatr Diabetes 2017 Dec 22;18(8):839-843. Epub 2016 Dec 22.

Department of Paediatric Medicine, Sidra Medical & Research Center, Doha, Qatar.

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http://dx.doi.org/10.1111/pedi.12483DOI Listing
December 2017

Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.

Dis Model Mech 2017 12 19;10(12):1411-1420. Epub 2017 Dec 19.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, CB2 0QQ, UK

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http://dx.doi.org/10.1242/dmm.030981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769609PMC
December 2017

Editorial: Are Rodent Models Fit for Investigation of Human Obesity and Related Diseases?

Front Nutr 2017 1;4:58. Epub 2017 Dec 1.

Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.3389/fnut.2017.00058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5717807PMC
December 2017

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

J Clin Endocrinol Metab 2017 08;102(8):2914-2921

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council (MRC) Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-00768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546860PMC
August 2017

Resolution of Hypoglycemia and Cardiovascular Dysfunction After Rituximab Treatment of Insulin Autoimmune Syndrome.

Diabetes Care 2017 07 1;40(7):e80-e82. Epub 2017 May 1.

University/British Heart Foundation Centre for Cardiovascular Science, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.2337/dc17-0264DOI Listing
July 2017

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

Mol Genet Genomic Med 2017 Jul 15;5(4):390-404. Epub 2017 May 15.

Wellcome Trust-MRC Institute of Metabolic ScienceUniversity of CambridgeCambridgeUK.

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http://dx.doi.org/10.1002/mgg3.296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511801PMC
July 2017

Type B Insulin Resistance Masquerading as Ovarian Hyperthecosis.

J Clin Endocrinol Metab 2017 06;102(6):1789-1791

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2016-3674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470776PMC
June 2017

Intractable Hypoglycemia in the Setting of Autoimmune Overlap Syndrome.

Pediatrics 2017 Jun 10;139(6). Epub 2017 May 10.

Division of Pediatric Endocrinology and.

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http://dx.doi.org/10.1542/peds.2016-0866DOI Listing
June 2017

Diagnosis of insulin autoimmune syndrome using polyethylene glycol precipitation and gel filtration chromatography with ex vivo insulin exchange.

Clin Endocrinol (Oxf) 2017 Mar 3;86(3):347-353. Epub 2016 Oct 3.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

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http://dx.doi.org/10.1111/cen.13179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324546PMC
March 2017

Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies.

G3 (Bethesda) 2017 01 5;7(1):257-268. Epub 2017 Jan 5.

Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20878.

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http://dx.doi.org/10.1534/g3.116.037184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217114PMC
January 2017

How Useful Are Monogenic Rodent Models for the Study of Human Non-Alcoholic Fatty Liver Disease?

Front Endocrinol (Lausanne) 2016 16;7:145. Epub 2016 Nov 16.

Centre for Liver Research, National Institute for Health Research (NIHR) Birmingham Liver Biomedical Research Unit, University of Birmingham, Birmingham, UK; Liver Unit, Queen Elizabeth University Hospital Birmingham, Birmingham, UK.

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http://dx.doi.org/10.3389/fendo.2016.00145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110950PMC
November 2016

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes.

Genome Med 2015 28;7:63. Epub 2015 Jun 28.

MRC Human Nutrition Research, Elsie Widdowson Laboratory, 120 Fulbourn Road, Cambridge, CB1 9NL UK ; Department of Biochemistry and the Cambridge Systems Biology Centre, University of Cambridge, Tennis Court Road, Cambridge, UK.

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http://dx.doi.org/10.1186/s13073-015-0179-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535665PMC
May 2016

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

Eur J Med Genet 2016 Apr 3;59(4):223-6. Epub 2016 Feb 3.

Department of Medical Genetics, University of Szeged, Szeged, Hungary; MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.002DOI Listing
April 2016

Acute knockdown of the insulin receptor or its substrates Irs1 and 2 in 3T3-L1 adipocytes suppresses adiponectin production.

Sci Rep 2016 Feb 18;6:21105. Epub 2016 Feb 18.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

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http://dx.doi.org/10.1038/srep21105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4758029PMC
February 2016

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

J Mol Endocrinol 2015 Oct;55(2):147-58

The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK The University of Cambridge Metabolic Research Laboratories Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK The National Institute for Health Research Cambridge Biomedical Research Centre Cambridge, UK Department of Pediatrics Sapienza University, Rome, Italy Metabolic Disease Group Wellcome Trust Sanger Institute, Cambridge, UK Wolfson Brain Imaging Centre University of Cambridge, Cambridge, UK National Institute for Health Research/Wellcome Trust Clinical Research Facility Cambridge, UK

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http://dx.doi.org/10.1530/JME-15-0090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722288PMC
October 2015

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

J Natl Cancer Inst 2015 Sep 1;107(9). Epub 2015 Jul 1.

MRC Epidemiology Unit, University of Cambridge, Cambridge, UK (KTN, SJS, AB, JRBP, LAL, CL, NJW, RAS); Department of Radiation Oncology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA (KTN); Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK (DJT, DFE, PDPP); Queensland Institute of Medical Research, Brisbane, Australia (JNP, ANECS, TO, ABS); University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge, UK (DBS, RKS); Hunter Medical Research Institute, John Hunter Hospital, Newcastle, Australia (JA, EH, RJS); Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, The University of Newcastle, Newcastle, Australia (JA, MM); Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK (AMD, DFE, PDPP); Centre for Information Based Medicine, School of Medicine and Public Health, University of Newcastle, Australia (EH, RJS).

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http://dx.doi.org/10.1093/jnci/djv178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572886PMC
September 2015

Successful treatment of type B insulin resistance with rituximab.

J Clin Endocrinol Metab 2015 May 12;100(5):1719-22. Epub 2015 Feb 12.

University Duisburg-Essen (E.-D.M., D.F., L.C.M.), Department of Endocrinology and Metabolism and Division of Laboratory Research, 45147 Essen, Germany; Wellcome Trust-Medical Research Council Institute of Metabolic Science (I.I., R.K.S.), Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom; and University of Maryland School of Medicine (R.M.), Division of Endocrinology, Diabetes, and Nutrition, Baltimore, Maryland 21201.

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http://dx.doi.org/10.1210/jc.2014-3552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422897PMC
May 2015

Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.

Diabetes 2013 Oct 8;62(10):3589-98. Epub 2013 Jul 8.

Genetics of Complex Traits, University of Exeter Medical School, Exeter, U.K.

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http://dx.doi.org/10.2337/db13-0128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781444PMC
October 2013

Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.

Eur J Endocrinol 2013 Oct 12;169(4):R71-80. Epub 2013 Sep 12.

The University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1530/EJE-13-0327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359904PMC
October 2013

Severe insulin resistance and hypertriglyceridemia after childhood total body irradiation.

Endocr Pract 2013 Jan-Feb;19(1):51-8

Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.4158/EP12115.ORDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569090PMC
August 2013

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.

Int J Dermatol 2013 Jul;52(7):820-3

Department of Skin & STD, Jawaharlal institute of post graduate medical education and research (JIPMER), Puducherry, India.

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http://dx.doi.org/10.1111/j.1365-4632.2012.05838.xDOI Listing
July 2013

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

Int J Dermatol 2013 Feb;52(2):182-5

Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

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http://dx.doi.org/10.1111/j.1365-4632.2012.05665.xDOI Listing
February 2013

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.

Authors:
Zari Dastani Marie-France Hivert Nicholas Timpson John R B Perry Xin Yuan Robert A Scott Peter Henneman Iris M Heid Jorge R Kizer Leo-Pekka Lyytikäinen Christian Fuchsberger Toshiko Tanaka Andrew P Morris Kerrin Small Aaron Isaacs Marian Beekman Stefan Coassin Kurt Lohman Lu Qi Stavroula Kanoni James S Pankow Hae-Won Uh Ying Wu Aurelian Bidulescu Laura J Rasmussen-Torvik Celia M T Greenwood Martin Ladouceur Jonna Grimsby Alisa K Manning Ching-Ti Liu Jaspal Kooner Vincent E Mooser Peter Vollenweider Karen A Kapur John Chambers Nicholas J Wareham Claudia Langenberg Rune Frants Ko Willems-Vandijk Ben A Oostra Sara M Willems Claudia Lamina Thomas W Winkler Bruce M Psaty Russell P Tracy Jennifer Brody Ida Chen Jorma Viikari Mika Kähönen Peter P Pramstaller David M Evans Beate St Pourcain Naveed Sattar Andrew R Wood Stefania Bandinelli Olga D Carlson Josephine M Egan Stefan Böhringer Diana van Heemst Lyudmyla Kedenko Kati Kristiansson Marja-Liisa Nuotio Britt-Marie Loo Tamara Harris Melissa Garcia Alka Kanaya Margot Haun Norman Klopp H-Erich Wichmann Panos Deloukas Efi Katsareli David J Couper Bruce B Duncan Margreet Kloppenburg Linda S Adair Judith B Borja James G Wilson Solomon Musani Xiuqing Guo Toby Johnson Robert Semple Tanya M Teslovich Matthew A Allison Susan Redline Sarah G Buxbaum Karen L Mohlke Ingrid Meulenbelt Christie M Ballantyne George V Dedoussis Frank B Hu Yongmei Liu Bernhard Paulweber Timothy D Spector P Eline Slagboom Luigi Ferrucci Antti Jula Markus Perola Olli Raitakari Jose C Florez Veikko Salomaa Johan G Eriksson Timothy M Frayling Andrew A Hicks Terho Lehtimäki George Davey Smith David S Siscovick Florian Kronenberg Cornelia van Duijn Ruth J F Loos Dawn M Waterworth James B Meigs Josee Dupuis J Brent Richards Benjamin F Voight Laura J Scott Valgerdur Steinthorsdottir Christian Dina Ryan P Welch Eleftheria Zeggini Cornelia Huth Yurii S Aulchenko Gudmar Thorleifsson Laura J McCulloch Teresa Ferreira Harald Grallert Najaf Amin Guanming Wu Cristen J Willer Soumya Raychaudhuri Steve A McCarroll Oliver M Hofmann Ayellet V Segrè Mandy van Hoek Pau Navarro Kristin Ardlie Beverley Balkau Rafn Benediktsson Amanda J Bennett Roza Blagieva Eric Boerwinkle Lori L Bonnycastle Kristina Bengtsson Boström Bert Bravenboer Suzannah Bumpstead Noël P Burtt Guillaume Charpentier Peter S Chines Marilyn Cornelis Gabe Crawford Alex S F Doney Katherine S Elliott Amanda L Elliott Michael R Erdos Caroline S Fox Christopher S Franklin Martha Ganser Christian Gieger Niels Grarup Todd Green Simon Griffin Christopher J Groves Candace Guiducci Samy Hadjadj Neelam Hassanali Christian Herder Bo Isomaa Anne U Jackson Paul R V Johnson Torben Jørgensen Wen H L Kao Augustine Kong Peter Kraft Johanna Kuusisto Torsten Lauritzen Man Li Aloysius Lieverse Cecilia M Lindgren Valeriya Lyssenko Michel Marre Thomas Meitinger Kristian Midthjell Mario A Morken Narisu Narisu Peter Nilsson Katharine R Owen Felicity Payne Ann-Kristin Petersen Carl Platou Christine Proença Inga Prokopenko Wolfgang Rathmann N William Rayner Neil R Robertson Ghislain Rocheleau Michael Roden Michael J Sampson Richa Saxena Beverley M Shields Peter Shrader Gunnar Sigurdsson Thomas Sparsø Klaus Strassburger Heather M Stringham Qi Sun Amy J Swift Barbara Thorand Jean Tichet Tiinamaija Tuomi Rob M van Dam Timon W van Haeften Thijs van Herpt Jana V van Vliet-Ostaptchouk G Bragi Walters Michael N Weedon Cisca Wijmenga Jacqueline Witteman Richard N Bergman Stephane Cauchi Francis S Collins Anna L Gloyn Ulf Gyllensten Torben Hansen Winston A Hide Graham A Hitman Albert Hofman David J Hunter Kristian Hveem Markku Laakso Andrew D Morris Colin N A Palmer Igor Rudan Eric Sijbrands Lincoln D Stein Jaakko Tuomilehto Andre Uitterlinden Mark Walker Richard M Watanabe Goncalo R Abecasis Bernhard O Boehm Harry Campbell Mark J Daly Andrew T Hattersley Oluf Pedersen Inês Barroso Leif Groop Rob Sladek Unnur Thorsteinsdottir James F Wilson Thomas Illig Philippe Froguel Cornelia M van Duijn Kari Stefansson David Altshuler Michael Boehnke Mark I McCarthy Nicole Soranzo Eleanor Wheeler Nicole L Glazer Nabila Bouatia-Naji Reedik Mägi Joshua Randall Paul Elliott Denis Rybin Abbas Dehghan Jouke Jan Hottenga Kijoung Song Anuj Goel Taina Lajunen Alex Doney Christine Cavalcanti-Proença Meena Kumari Nicholas J Timpson Carina Zabena Erik Ingelsson Ping An Jeffrey O'Connell Jian'an Luan Amanda Elliott Steven A McCarroll Rosa Maria Roccasecca François Pattou Praveen Sethupathy Yavuz Ariyurek Philip Barter John P Beilby Yoav Ben-Shlomo Sven Bergmann Murielle Bochud Amélie Bonnefond Knut Borch-Johnsen Yvonne Böttcher Eric Brunner Suzannah J Bumpstead Yii-Der Ida Chen Peter Chines Robert Clarke Lachlan J M Coin Matthew N Cooper Laura Crisponi Ian N M Day Eco J C de Geus Jerome Delplanque Annette C Fedson Antje Fischer-Rosinsky Nita G Forouhi Maria Grazia Franzosi Pilar Galan Mark O Goodarzi Jürgen Graessler Scott Grundy Rhian Gwilliam Göran Hallmans Naomi Hammond Xijing Han Anna-Liisa Hartikainen Caroline Hayward Simon C Heath Serge Hercberg David R Hillman Aroon D Hingorani Jennie Hui Joe Hung Marika Kaakinen Jaakko Kaprio Y Antero Kesaniemi Mika Kivimaki Beatrice Knight Seppo Koskinen Peter Kovacs Kirsten Ohm Kyvik G Mark Lathrop Debbie A Lawlor Olivier Le Bacquer Cécile Lecoeur Yun Li Robert Mahley Massimo Mangino María Teresa Martínez-Larrad Jarred B McAteer Ruth McPherson Christa Meisinger David Melzer David Meyre Braxton D Mitchell Sutapa Mukherjee Silvia Naitza Matthew J Neville Marco Orrù Ruth Pakyz Giuseppe Paolisso Cristian Pattaro Daniel Pearson John F Peden Nancy L Pedersen Andreas F H Pfeiffer Irene Pichler Ozren Polasek Danielle Posthuma Simon C Potter Anneli Pouta Michael A Province Nigel W Rayner Kenneth Rice Samuli Ripatti Fernando Rivadeneira Olov Rolandsson Annelli Sandbaek Manjinder Sandhu Serena Sanna Avan Aihie Sayer Paul Scheet Udo Seedorf Stephen J Sharp Beverley Shields Gunnar Sigurðsson Eric J G Sijbrands Angela Silveira Laila Simpson Andrew Singleton Nicholas L Smith Ulla Sovio Amy Swift Holly Syddall Ann-Christine Syvänen Anke Tönjes André G Uitterlinden Ko Willems van Dijk Dhiraj Varma Sophie Visvikis-Siest Veronique Vitart Nicole Vogelzangs Gérard Waeber Peter J Wagner Andrew Walley Kim L Ward Hugh Watkins Sarah H Wild Gonneke Willemsen Jaqueline C M Witteman John W G Yarnell Diana Zelenika Björn Zethelius Guangju Zhai Jing Hua Zhao M Carola Zillikens Ingrid B Borecki Pierre Meneton Patrik K E Magnusson David M Nathan Gordon H Williams Kaisa Silander Stefan R Bornstein Peter Schwarz Joachim Spranger Fredrik Karpe Alan R Shuldiner Cyrus Cooper Manuel Serrano-Ríos Lars Lind Lyle J Palmer Frank B Hu Paul W Franks Shah Ebrahim Michael Marmot W H Linda Kao Peter Paul Pramstaller Alan F Wright Michael Stumvoll Anders Hamsten Thomas A Buchanan Timo T Valle Jerome I Rotter Brenda W J H Penninx Dorret I Boomsma Antonio Cao Angelo Scuteri David Schlessinger Manuela Uda Aimo Ruokonen Marjo-Riitta Jarvelin Leena Peltonen Vincent Mooser Robert Sladek Kiran Musunuru Albert V Smith Andrew C Edmondson Ioannis M Stylianou Masahiro Koseki James P Pirruccello Daniel I Chasman Christopher T Johansen Sigrid W Fouchier Gina M Peloso Maja Barbalic Sally L Ricketts Joshua C Bis Mary F Feitosa Marju Orho-Melander Olle Melander Xiaohui Li Mingyao Li Yoon Shin Cho Min Jin Go Young Jin Kim Jong-Young Lee Taesung Park Kyunga Kim Xueling Sim Rick Twee-Hee Ong Damien C Croteau-Chonka Leslie A Lange Joshua D Smith Andreas Ziegler Weihua Zhang Robert Y L Zee John B Whitfield John R Thompson Ida Surakka Tim D Spector Johannes H Smit Juha Sinisalo James Scott Juha Saharinen Chiara Sabatti Lynda M Rose Robert Roberts Mark Rieder Alex N Parker Guillaume Pare Christopher J O'Donnell Markku S Nieminen Deborah A Nickerson Grant W Montgomery Wendy McArdle David Masson Nicholas G Martin Fabio Marroni Gavin Lucas Robert Luben Marja-Liisa Lokki Guillaume Lettre Lenore J Launer Edward G Lakatta Reijo Laaksonen Kirsten O Kyvik Inke R König Kay-Tee Khaw Lee M Kaplan Åsa Johansson A Cecile J W Janssens Wilmar Igl G Kees Hovingh Christian Hengstenberg Aki S Havulinna Nicholas D Hastie Tamara B Harris Talin Haritunians Alistair S Hall Leif C Groop Elena Gonzalez Nelson B Freimer Jeanette Erdmann Kenechi G Ejebe Angela Döring Anna F Dominiczak Serkalem Demissie Panagiotis Deloukas Ulf de Faire Gabriel Crawford Yii-der I Chen Mark J Caulfield S Matthijs Boekholdt Themistocles L Assimes Thomas Quertermous Mark Seielstad Tien Y Wong E-Shyong Tai Alan B Feranil Christopher W Kuzawa Herman A Taylor Stacey B Gabriel Hilma Holm Vilmundur Gudnason Ronald M Krauss Jose M Ordovas Patricia B Munroe Jaspal S Kooner Alan R Tall Robert A Hegele John J P Kastelein Eric E Schadt David P Strachan Muredach P Reilly Nilesh J Samani Heribert Schunkert L Adrienne Cupples Manjinder S Sandhu Paul M Ridker Daniel J Rader Sekar Kathiresan

PLoS Genet 2012 29;8(3):e1002607. Epub 2012 Mar 29.

Department of Epidemiology, Biostatistics, and Occupational Health, Jewish General Hospital, Lady Davis Institute, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1002607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315470PMC
September 2012

A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.

J Pediatr Endocrinol Metab 2012 ;25(3-4):363-6

Division of Neonatology, Department of Neonatal Medicine, Salesi Children's University Hospital, Ancona, Italy.

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July 2012

"Donohue syndrome".

J Clin Endocrinol Metab 2012 May 7;97(5):1416-7. Epub 2012 Mar 7.

The Liggins Institute, University of Auckland, Private Bag 92019, Auckland 1023, New Zealand.

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http://dx.doi.org/10.1210/jc.2011-3215DOI Listing
May 2012

Metabolic insights from extreme human insulin resistance phenotypes.

Best Pract Res Clin Endocrinol Metab 2012 Apr;26(2):145-57

Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Institute of Metabolic Science, University of Cambridge, UK.

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http://dx.doi.org/10.1016/j.beem.2011.09.003DOI Listing
April 2012

Next generation sequencing--implications for clinical practice.

Br Med Bull 2011 23;99:53-71. Epub 2011 Jun 23.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Box 289, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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https://academic.oup.com/bmb/article-lookup/doi/10.1093/bmb/
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http://dx.doi.org/10.1093/bmb/ldr029DOI Listing
March 2012

Neurokinin B signalling in the human reproductive axis.

Mol Cell Endocrinol 2011 Oct 22;346(1-2):57-64. Epub 2011 Jul 22.

Cukurova University, Department of Pediatric Endocrinology, Balcali, Adana, Turkey.

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http://dx.doi.org/10.1016/j.mce.2011.07.014DOI Listing
October 2011

Genetic syndromes of severe insulin resistance.

Endocr Rev 2011 Aug 2;32(4):498-514. Epub 2011 May 2.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://dx.doi.org/10.1210/er.2010-0020DOI Listing
August 2011

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

Authors:
Tuomas O Kilpeläinen M Carola Zillikens Alena Stančákova Francis M Finucane Janina S Ried Claudia Langenberg Weihua Zhang Jacques S Beckmann Jian'an Luan Liesbeth Vandenput Unnur Styrkarsdottir Yanhua Zhou Albert Vernon Smith Jing-Hua Zhao Najaf Amin Sailaja Vedantam So-Youn Shin Talin Haritunians Mao Fu Mary F Feitosa Meena Kumari Bjarni V Halldorsson Emmi Tikkanen Massimo Mangino Caroline Hayward Ci Song Alice M Arnold Yurii S Aulchenko Ben A Oostra Harry Campbell L Adrienne Cupples Kathryn E Davis Angela Döring Gudny Eiriksdottir Karol Estrada José Manuel Fernández-Real Melissa Garcia Christian Gieger Nicole L Glazer Candace Guiducci Albert Hofman Steve E Humphries Bo Isomaa Leonie C Jacobs Antti Jula David Karasik Magnus K Karlsson Kay-Tee Khaw Lauren J Kim Mika Kivimäki Norman Klopp Brigitte Kühnel Johanna Kuusisto Yongmei Liu Osten Ljunggren Mattias Lorentzon Robert N Luben Barbara McKnight Dan Mellström Braxton D Mitchell Vincent Mooser José Maria Moreno Satu Männistö Jeffery R O'Connell Laura Pascoe Leena Peltonen Belén Peral Markus Perola Bruce M Psaty Veikko Salomaa David B Savage Robert K Semple Tatjana Skaric-Juric Gunnar Sigurdsson Kijoung S Song Timothy D Spector Ann-Christine Syvänen Philippa J Talmud Gudmar Thorleifsson Unnur Thorsteinsdottir André G Uitterlinden Cornelia M van Duijn Antonio Vidal-Puig Sarah H Wild Alan F Wright Deborah J Clegg Eric Schadt James F Wilson Igor Rudan Samuli Ripatti Ingrid B Borecki Alan R Shuldiner Erik Ingelsson John-Olov Jansson Robert C Kaplan Vilmundur Gudnason Tamara B Harris Leif Groop Douglas P Kiel Fernando Rivadeneira Mark Walker Inês Barroso Peter Vollenweider Gérard Waeber John C Chambers Jaspal S Kooner Nicole Soranzo Joel N Hirschhorn Kari Stefansson H-Erich Wichmann Claes Ohlsson Stephen O'Rahilly Nicholas J Wareham Elizabeth K Speliotes Caroline S Fox Markku Laakso Ruth J F Loos

Nat Genet 2011 Jun 26;43(8):753-60. Epub 2011 Jun 26.

Medical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262230PMC
June 2011

Neurokinin B and its receptor in hypogonadotropic hypogonadism.

Front Horm Res 2010 8;39:133-141. Epub 2010 Apr 8.

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http://dx.doi.org/10.1159/000312699DOI Listing
December 2010

What is the best management strategy for patients with severe insulin resistance?

Clin Endocrinol (Oxf) 2010 Sep 23;73(3):286-90. Epub 2010 Apr 23.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2010.03810.xDOI Listing
September 2010

Recent insights into fatty liver, metabolic dyslipidaemia and their links to insulin resistance.

Curr Opin Lipidol 2010 Aug;21(4):329-36

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://pdfs.journals.lww.com/co-lipidology/2010/08000/Recent
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http://dx.doi.org/10.1097/MOL.0b013e32833b7782DOI Listing
August 2010

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions.

Clin Endocrinol (Oxf) 2010 Apr 29;72(4):427-35. Epub 2009 Aug 29.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1111/j.1365-2265.2009.03687.xDOI Listing
April 2010

Hypoadiponectinemia--cause or consequence of human "insulin resistance"?

J Clin Endocrinol Metab 2010 Apr 17;95(4):1544-54. Epub 2010 Feb 17.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Hills Road, Cambridge CB2 OQQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-2286DOI Listing
April 2010

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.

PLoS Genet 2009 Dec 11;5(12):e1000768. Epub 2009 Dec 11.

Departments of Medicine, Human Genetics, and Epidemiology and Biostatistics, Jewish General Hospital, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1371/journal.pgen.1000768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2781107PMC
December 2009

Sex hormone-binding globulin and risk of type 2 diabetes.

N Engl J Med 2009 Dec;361(27):2677; author reply 2677-8

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December 2009

From bending DNA to diabetes: the curious case of HMGA1.

Authors:
Robert K Semple

J Biol 2009 27;8(7):64. Epub 2009 Jul 27.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 0QR, UK.

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http://dx.doi.org/10.1186/jbiol164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736670PMC
November 2009

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

J Clin Endocrinol Metab 2009 Oct 15;94(10):3633-3639. Epub 2009 Sep 15.

Pediatric Endocrinology (T.G., A.B., S.T., T.A., Z.A.), Marmara University Hospital, Altunizade, 34662 Istanbul, Turkey; University of Cambridge (F.R., F.M.G., G.T.), Department of Clinical Biochemistry, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; University of Cambridge Metabolic Research Laboratories (N.R., K.P., S.O., R.K.S.), Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 8RP, United Kingdom; Forensic Medicine (L.D.K., H.C., A.S.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey; and Pediatric Endocrinology and Metabolism (A.K.T.), Cukurova University, Faculty of Medicine, Balcali, 01330 Adana, Turkey.

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http://dx.doi.org/10.1210/jc.2009-0551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306717PMC
October 2009

Autoimmune forms of hypoglycemia.

Medicine (Baltimore) 2009 May;88(3):141-53

Clinical Endocrinology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, United States.

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http://dx.doi.org/10.1097/MD.0b013e3181a5b42eDOI Listing
May 2009

Complement abnormalities in acquired lipodystrophy revisited.

J Clin Endocrinol Metab 2009 Jan 14;94(1):10-6. Epub 2008 Oct 14.

Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2008-1703DOI Listing
January 2009

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.

Diabetes 2008 Aug 5;57(8):2055-60. Epub 2008 May 5.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.2337/db08-0184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494687PMC
August 2008

Plasma adiponectin as a marker of insulin receptor dysfunction: clinical utility in severe insulin resistance.

Diabetes Care 2008 May 25;31(5):977-9. Epub 2008 Feb 25.

Institute of Metabolic Science, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.2337/dc07-2194DOI Listing
May 2008