Our publications

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Sadia Saeed, Roohia Khanam, Qasim M. Janjua, Jaida Manzoor, Lijiao Ning, Sharoon Hanook, Mickaël Canouil, Muhammad Ali, Hina Ayesha, Waqas I. Khan, I. Sadaf Farooqi, Giles S.H. Yeo, Stephen O’Rahilly, Amélie Bonnefond, Taeed A. Butt, Muhammad Arslan, Philippe Froguel.High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor. Cell reports medicine. 19 sept 2023.

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Jared G MainaZhanna BalkhiyarovaArie NouwenIgor PupkoAnna UlrichMathilde BoisselAmélie BonnefondPhilippe FroguelAmna KhamisInga ProkopenkoMarika Kaakinen. Diabete Care. 2023 Sept 01

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Wenwen Gao, Lei Liu, Eunna Huh, Florence Gbahou, Erika Cecon, Masaya Oshima, Ludivine Houzé, Panagiotis Katsonis, Alan Hegron, Zhiran Fan, Guofei Hou, Guillaume Charpentier, Mathilde Boissel, Mehdi Derhourhi, Michel Marre, Beverley Balkau, Philippe Froguel, Raphael Scharfmann, Olivier Lichtarge, Julie Dam, Amélie Bonnefond, Jianfeng Liu and Ralf Jockers. Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity. Nature Metabolims. 2023 Sept 14.

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Petros Andrikopoulos, Judith Aron-Wisnewsky, Rima Chakaroun, Antonis Myridakis, Sofia K. Forslund, Trine Nielsen, Solia Adriouch, Bridget Holmes, Julien Chilloux, Sara VieiraSilva, Gwen Falony, Joe-Elie Salem, Fabrizio Andreelli, Eugeni Belda, Julius Kieswich, Kanta Chechi, Francesc Puig-Castellvi, Mickael Chevalier, Emmanuelle Le Chatelier, Michael T. Olanipekun, Lesley Hoyles, Renato Alves, Gerard Helft, Richard Isnard, Lars Køber, Luis Pedro Coelho, Christine Rouault, Dominique Gauguier, Jens Peter Gøtze, Edi Prifti, Philippe Froguel, The MetaCardis Consortium*, Jean-Daniel Zucker, Fredrik Bäckhed, Henrik Vestergaard, Torben Hansen, Jean-Michel Oppert, Matthias Blüher, Jens Nielsen, Jeroen Raes, Peer Bork, Muhammad M. Yaqoob, Michael Stumvoll, Oluf Pedersen, S. Dusko Ehrlich, Karine Clément & Marc-Emmanuel Dumas, Evidence of a causal and modifiable relationship between kidney function and circulating trimethylamine N-oxide. Nature Communications. 2023 Sept 20

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Serger E, Luengo-Gutierrez L, Chadwick JS, Kong G, Zhou L, Crawford G, Danzi MC, Myridakis A, Brandis A, Bello AT, Müller F, Sanchez-Vassopoulos A, De Virgiliis F, Liddell P, Dumas ME, Strid J, Mani S, Dodd D, Di Giovanni S. The gut metabolite indole-3 propionate promotes nerve regeneration and repair. Nature. 2022 Jun 22.

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Fruchart M, Quindroit P, Patel H, Beuscart JB, Calafiore M, Lamer A. Implementation of a Data Warehouse in Primary Care: First Analyses with Elderly Patients. Stud Health Technol Inform. 2022 May 25;294:505-509.

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Coisne A, Montaigne D, Ninni S, Lamblin N, Lemesle G, Delsart P, Filiot A, Andrey P, Balaye P, Butruille L, Decoin R, Woitrain E, Granada JF, Staels B, Bauters C; VALVENOR investigators. Diabetes mellitus and cardiovascular mortality across the spectrum of aortic stenosis. Heart. 2022 Jun ; In press.

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Le Collen L, Delemer B, Spodenkiewicz M, Cornillet Lefebvre P, Durand E, Vaillant E, Badreddine A, Derhourhi M, Mouhoub TA, Jouret G, Juttet P, Souchon PF, Vaxillaire M, Froguel P, Bonnefond A, Doco Fenzy M. Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis. Orphanet J Rare Dis. 2022 Feb 28;17(1):86.

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Rodrigues T, Mishyn V, Leroux Y, Butruille L, Woitrain E, Barras A, Aspermair P, Happy H, Kleber C, Boukherroub R, Montaigne D, Knoll W, Szunerits S. Highly performing graphene-based field effect transistor for the differentiation between mild-moderate-severe myocardial injury. Nano Today. 2022, 43, 101391.

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Canouil M, Khamis A, Keikkala E, Hummel S, Lobbens S, Bonnefond A, Delahaye F, Tzala E, Mustaniemi S, Vääräsmäki M, Jarvelin MR, Sebert S, Kajantie E, Froguel P, Andrew T. Epigenome-Wide Association Study Reveals Methylation Loci Associated With Offspring Gestational Diabetes Mellitus Exposure and Maternal MethylomeDiabetes Care. 2021, 44(9):1992-1999.

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Fromentin S, Forslund SK, Chechi K, Aron-Wisnewsky J, Chakaroun R, Nielsen T, Tremaroli V, Ji B, Prifti E, Myridakis A, Chilloux J, Andrikopoulos P, Fan Y, Olanipekun MT, Alves R, Adiouch S, Bar N, Talmor-Barkan Y, Belda E, Caesar R, Coelho LP, Falony G, Fellahi S, Galan P, Galleron N, Helft G, Hoyles L, Isnard R, Le Chatelier E, Julienne H, Olsson L, Pedersen HK, Pons N, Quinquis B, Rouault C, Roume H, Salem JE, Schmidt TSB, Vieira-Silva S, Li P, Zimmermann-Kogadeeva M, Lewinter C, Søndertoft NB, Hansen TH, Gauguier D, Gøtze JP, Køber L, Kornowski R, Vestergaard H, Hansen T, Zucker JD, Hercberg S, Letunic I, Bäckhed F, Oppert JM, Nielsen J, Raes J, Bork P, Stumvoll M, Segal E, Clément K, Dumas ME, Ehrlich SD, Pedersen O. Microbiome and metabolome features of the cardiometabolic disease spectrumNat Med2022 Feb;28(2):303-314.

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Cornière N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasisJ Med Genet2022 Feb 3:jmedgenet-2021-108256.

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Saeed S, Janjua QM, Haseeb A, Khanam R, Durand E, Vaillant E, Ning L, Badreddine A, Berberian L, Boissel M, Amanzougarene S, Canouil M, Derhourhi M, Bonnefond A, Arslan M, Froguel P. Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of PakistanDiabetes2022 Jan 21: Epub ahead of print.

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Forzano, O. Antonova, A. Clarke, G. de Wert, S. Hentze, Y. Jamshidi, Y. Moreau, M. Perola, I. Prokopenko, A. Read, A. Reymond, V. Stefansdottir, C. van El & M. Genuardi, on behalf of the Executive Committee of the European Society of Human Genetics & the Public and Professional Policy Committee of the European Society of Human Genetics. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. Eur J Hum Genet2021 Dec 17.

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Forslund SK, Chakaroun R, Zimmermann-Kogadeeva M, Markó L, Aron-Wisnewsky J, Nielsen T, Moitinho-Silva L, Schmidt TSB, Falony G, Vieira-Silva S, Adriouch S, Alves RJ, Assmann K, Bastard JP, Birkner T, Caesar R, Chilloux J, Coelho LP, Fezeu L, Galleron N, Helft G, Isnard R, Ji B, Kuhn M, Le Chatelier E, Myridakis A, Olsson L, Pons N, Prifti E, Quinquis B, Roume H, Salem JE, Sokolovska N, Tremaroli V, Valles-Colomer M, Lewinter C, Søndertoft NB, Pedersen HK, Hansen TH; MetaCardis Consortium*, Gøtze JP, Køber L, Vestergaard H, Hansen T, Zucker JD, Hercberg S, Oppert JM, Letunic I, Nielsen J, Bäckhed F, Ehrlich SD, Dumas ME, Raes J, Pedersen O, Clément K, Stumvoll M, Bork P. Combinatorial, additive and dose-dependent drug-microbiome associations. Nature2021 600(7889):500-505.

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Quindroit P, Baclet N, Gerard E, Robert L, Lemaitre M, Gautier S, Delannoy-Rousselière C, Décaudin B, Vambergue A, Beuscart J.-B. Defining Potentially Inappropriate Prescriptions for Hypoglycaemic Agents to Improve Computerised Decision Support: A Study ProtocolHealthcare 20219, 1539.

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Balkhiyarova Z, Luciano R, Kaakinen M, Ulrich A, Shmeliov A, Bianchi M, Chioma L, Dallapiccola B, Prokopenko I, Manco M. Relationship between glucose homeostasis and obesity in early life-A study of Italian children and adolescentsHum Mol Genet. 2021, 30:ddab287 – Online ahead of print.

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Nouwen A, Deschênes SS, Balkhiyarova Z, Albertorio-Díaz JR, Prokopenko I, Schmitz N. Measurement invariance testing of the patient health questionnaire-9 (PHQ-9) across people with and without diabetes mellitus from the NHANES, EMHS and UK Biobank datasetsJ Affect Disord. 2021, 292:311-318.

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Rayevsky A, Sirokha D, Samofalova D, Lozhko D, Gorodna O, Prokopenko I, Livshits L. Functional Effects In Silico Prediction for Androgen Receptor Ligand-Binding Domain Novel I836S MutationLife. 2021, 11:659.

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Montaigne D, Butruille L, Staels B. PPAR control of metabolism and cardiovascular functionsNat Rev Cardiol. 2021, 14.

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Montaigne D, Alhawajri N, Jacquelinet M, Coppin A, Frimat M, Bouyé S, Lebuffe G, Staels B, Jacquelinet C, Hazzan M. Day-Time Declamping Is Associated with Better Outcomes in Kidney Transplantation: The Circarein StudyJ Clin Med. 2021 May 26;10(11):2322.

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Mayneris-Perxachs J, Cardellini M, Hoyles L, Latorre J, Davato F, Moreno-Navarrete JM, Arnoriaga-Rodríguez M, Serino M, Abbott J, Barton RH, Puig J, Fernández-Real X, Ricart W, Tomlinson C, Woodbridge M, Gentileschi P, Butcher SA, Holmes E, Nicholson JK, Pérez-Brocal V, Moya A, Clain DM, Burcelin R, Dumas ME, Federici M, Fernández-Real JM. Iron status influences non-alcoholic fatty liver disease in obesity through the gut microbiomeMicrobiome. 2021, 7;9(1):104.

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Brial F, Chilloux J, Nielsen T, Vieira-Silva S, Falony G, Andrikopoulos P, Olanipekun M, Hoyles L, Djouadi F, Neves AL, Rodriguez-Martinez A, Mouawad GI, Pons N, Forslund S, Le-Chatelier E, Le Lay A, Nicholson J, Hansen T, Hyötyläinen T, Clément K, Oresic M, Bork P, Ehrlich SD, Raes J, Pedersen OB, Gauguier D, Dumas ME. Human and preclinical studies of the host-gut microbiome co-metabolite hippurate as a marker and mediator of metabolic healthGut. 2021, 70(11):2105-2114.

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Bonnefond A, Froguel P. Clustering for a better prediction of type 2 diabetes mellitus. Nat Rev Endocrinol. 2021, 17(4):193-194.

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Lagou V, […], Prokopenko I; Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC). Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Nat Commun. 2021, 12(1):24.

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Pathogenic variants in actionable MODY genes associated with type 2 diabetes.
Amélie Bonnefond, Mathilde Boissel, Alexandre Bolze, Emmanuelle Durand, Bénédicte Toussaint, Emmanuel Vaillant, Stefan Gaget, Franck De Graeve, Aurélie Dechaume, Frédéric Allegaert, David Le Guilcher, Loïc Yengo, Véronique Dhennin, Jean-Michel Borys, James T. Lu, Elizabeth T. Cirulli, Gai Elhanan, Ronan Roussel, Beverley Balkau, Michel Marre, Sylvia Franc, Guillaume Charpentier, Martine Vaxillaire, Mickaël Canouil, Nicole L. Washington, Joseph J. Grzymski, Philippe Froguel
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