Amélie Bonnefond - Publications

Affiliations: 
Lille 2 
Area:
Diabetes, Obesity, Monogenic forms, NGS

184 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 Burrows K, Heiskala A, Bradfield JP, Balkhiyarova Z, Ning L, Boissel M, Chan YM, Froguel P, Bonnefond A, Hakonarson H, Alves AC, Lawlor DA, Kaakinen M, Järvelin MR, Grant SFA, et al. A framework for conducting time-varying genome-wide association studies: An application to body mass index across childhood in six multiethnic cohorts. Medrxiv : the Preprint Server For Health Sciences. PMID 38559031 DOI: 10.1101/2024.03.13.24304263  0.4
2024 Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, ... ... Bonnefond A, et al. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. PMID 38374256 DOI: 10.1038/s41586-024-07019-6  0.461
2024 Folon L, Baron M, Scherrer V, Toussaint B, Vaillant E, Loiselle H, Dechaume A, De Pooter F, Boutry R, Boissel M, Diallo A, Ning L, Balkau B, Charpentier G, Franc S, ... ... Bonnefond A, et al. Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes. Diabetes Care. PMID 38170957 DOI: 10.2337/dc23-1851  0.49
2023 Dance A, Fernandes J, Toussaint B, Vaillant E, Boutry R, Baron M, Loiselle H, Balkau B, Charpentier G, Franc S, Ibberson M, Marre M, Gernay M, Fadeur M, Paquot N, ... ... Bonnefond A, et al. Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics. Molecular Metabolism. 101867. PMID 38159881 DOI: 10.1016/j.molmet.2023.101867  0.429
2023 Kouidrat Y, Collen LL, Vaxillaire M, Dechaume A, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Delemer B, Azahaf M, Froguel P, Bonnefond A. Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: lessons for precision medicine. Diabetes & Metabolism. 101507. PMID 38141807 DOI: 10.1016/j.diabet.2023.101507  0.467
2023 Johanns M, Haas JT, Raverdy V, Vandel J, Chevalier-Dubois J, Guille L, Derudas B, Legendre B, Caiazzo R, Verkindt H, Gnemmi V, Leteurtre E, Derhourhi M, Bonnefond A, Froguel P, et al. Time-of-day-dependent variation of the human liver transcriptome and metabolome is disrupted in MASLD. Jhep Reports : Innovation in Hepatology. 6: 100948. PMID 38125300 DOI: 10.1016/j.jhepr.2023.100948  0.304
2023 Meulebrouck S, Scherrer V, Boutry R, Toussaint B, Vaillant E, Dechaume A, Loiselle H, Balkau B, Charpentier G, Franc S, Marre M, Baron M, Vaxillaire M, Derhourhi M, Boissel M, ... ... Bonnefond A, et al. Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas. Diabetologia. PMID 38051360 DOI: 10.1007/s00125-023-06035-x  0.495
2023 de Las Fuentes L, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJ, Munroe PB, Miller CL, Aschard H, Aslibekyan S, Bartz TM, Bielak LF, Chai JF, Cheng CY, Dorajoo R, ... ... Bonnefond A, et al. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Frontiers in Genetics. 14: 1235337. PMID 38028628 DOI: 10.3389/fgene.2023.1235337  0.365
2023 Fumeron F, Velho G, Alzaid F, El Boustany R, Vandiedonck C, Bonnefond A, Froguel P, Potier L, Marre M, Balkau B, Roussel R, Venteclef N. Genetic variants of interferon-response factor 5 are associated with the incidence of chronic kidney disease: the D.E.S.I.R. study. Genes and Immunity. 24: 303-308. PMID 37978231 DOI: 10.1038/s41435-023-00229-4  0.335
2023 Gao W, Liu L, Huh E, Gbahou F, Cecon E, Oshima M, Houzé L, Katsonis P, Hegron A, Fan Z, Hou G, Charpentier G, Boissel M, Derhourhi M, Marre M, ... ... Bonnefond A, et al. Human GLP1R variants affecting GLP1R cell surface expression are associated with impaired glucose control and increased adiposity. Nature Metabolism. PMID 37709961 DOI: 10.1038/s42255-023-00889-6  0.477
2023 Saeed S, Khanam R, Janjua QM, Manzoor J, Ning L, Hanook S, Canouil M, Ali M, Ayesha H, Khan WI, Farooqi IS, Yeo GSH, O'Rahilly S, Bonnefond A, Butt TA, et al. High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor. Cell Reports. Medicine. 101187. PMID 37659411 DOI: 10.1016/j.xcrm.2023.101187  0.336
2023 Orioli L, Canouil M, Sawadogo K, Ning L, Deldicque L, Lause P, de Barsy M, Froguel P, Loumaye A, Deswysen Y, Navez B, Bonnefond A, Thissen JP. Identification of myokines susceptible to improve glucose homeostasis after bariatric surgery. European Journal of Endocrinology. 189: 409-421. PMID 37638789 DOI: 10.1093/ejendo/lvad122  0.379
2023 Hu M, Bonas-Guarch S, Kim I, Morán I, Peng W, Bonnefond A, Khamis A, Froguel P, Rutter GA. Multiple genetic variants at the locus affect a local super-enhancer cluster to influence pancreatic β-cell survival and function. Biorxiv : the Preprint Server For Biology. PMID 37502937 DOI: 10.1101/2023.07.13.548906  0.445
2023 Oger F, Moreno M, Derhourhi M, Thiroux B, Berberian L, Bourouh C, Durand E, Amanzougarene S, Badreddine A, Blanc E, Molendi-Coste O, Pineau L, Pasquetti G, Rolland L, Carney C, ... ... Bonnefond A, et al. Pharmacological HDAC inhibition impairs pancreatic β-cell function through an epigenome-wide reprogramming. Iscience. 26: 107231. PMID 37496675 DOI: 10.1016/j.isci.2023.107231  0.349
2023 Maina JG, Balkhiyarova Z, Nouwen A, Pupko I, Ulrich A, Boissel M, Bonnefond A, Froguel P, Khamis A, Prokopenko I, Kaakinen M. Bidirectional Mendelian Randomization and Multiphenotype GWAS Show Causality and Shared Pathophysiology Between Depression and Type 2 Diabetes. Diabetes Care. PMID 37494602 DOI: 10.2337/dc22-2373  0.414
2023 Oger F, Bourouh C, Friano ME, Courty E, Rolland L, Gromada X, Moreno M, Carney C, Rabhi N, Durand E, Amanzougarene S, Berberian L, Derhourhi M, Blanc E, Hannou SA, ... ... Bonnefond A, et al. β-cell specific E2f1 deficiency impairs glucose homeostasis, β-cell identity and insulin secretion. Diabetes. PMID 37216637 DOI: 10.2337/db22-0604  0.365
2023 Maina JG, Pascat V, Zudina L, Ulrich A, Pupko I, Bonnefond A, Balkhiyarova Z, Kaakinen M, Froguel P, Prokopenko I. Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity. European Journal of Human Genetics : Ejhg. PMID 37161092 DOI: 10.1038/s41431-023-01301-3  0.397
2023 Le Collen L, Delemer B, Poitou C, Vaxillaire M, Toussaint B, Dechaume A, Badreddine A, Boissel M, Derhourhi M, Clément K, Petit JM, Mau-Them FT, Bruel AL, Thauvin-Robinet C, Saveanu A, ... ... Bonnefond A, et al. Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: implication for MC4R agonist use. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100857. PMID 37092539 DOI: 10.1016/j.gim.2023.100857  0.421
2023 Saeed S, Ning L, Badreddine A, Mirza MU, Boissel M, Khanam R, Manzoor J, Janjua QM, Khan WI, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Trant JF, Siegert AM, ... ... Bonnefond A, et al. Biallelic mutations in P4HTM cause syndromic obesity. Diabetes. PMID 37083980 DOI: 10.2337/db22-1017  0.437
2023 Xiao J, El Eid L, Buenaventura T, Boutry R, Bonnefond A, Jones B, Rutter GA, Froguel P, Tomas A. Control of human pancreatic beta cell kinome by GLP-1R biased agonism. Diabetes, Obesity & Metabolism. PMID 37039251 DOI: 10.1111/dom.15083  0.312
2023 Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Ana Luiza de SVA, Sonehara K, Namba S, Lee SSK, Preuss MH, ... ... Bonnefond A, et al. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. Medrxiv : the Preprint Server For Health Sciences. PMID 37034649 DOI: 10.1101/2023.03.31.23287839  0.469
2023 Kahoul Y, Yao X, Oger F, Moreno M, Amanzougarene S, Derhourhi M, Durand E, Boutry R, Bonnefond A, Froguel P, Dani C, Annicotte JS, Breton C. Knocking Down in 3D hiPSC-Derived Brown Adipose Progenitors Potentiates Differentiation, Oxidative Metabolism and Browning Process. Cells. 12. PMID 36980212 DOI: 10.3390/cells12060870  0.348
2023 Talbot F, Feetham CH, Mokrosiński J, Lawler K, Keogh JM, Henning E, Mendes de Oliveira E, Ayinampudi V, Saeed S, Bonnefond A, Arslan M, Yeo GSH, Froguel P, Bechtold DA, Adamson A, et al. A rare human variant that disrupts GPR10 signalling causes weight gain in mice. Nature Communications. 14: 1450. PMID 36922513 DOI: 10.1038/s41467-023-36966-3  0.392
2023 Bonnefond A, Unnikrishnan R, Doria A, Vaxillaire M, Kulkarni RN, Mohan V, Trischitta V, Froguel P. Monogenic diabetes. Nature Reviews. Disease Primers. 9: 12. PMID 36894549 DOI: 10.1038/s41572-023-00421-w  0.475
2023 Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc S, Marre M, Aboulouard S, Salzet M, ... ... Bonnefond A, et al. Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study. The Lancet. Diabetes & Endocrinology. 11: 182-190. PMID 36822744 DOI: 10.1016/S2213-8587(22)00392-8  0.459
2022 Froguel P, Bonnefond A. The discovery of human agouti-induced obesity and its implication for genetic diagnosis. Nature Metabolism. 4: 1614-1615. PMID 36536131 DOI: 10.1038/s42255-022-00695-6  0.411
2022 Bourouh C, Courty E, Rolland L, Pasquetti G, Gromada X, Rabhi N, Carney C, Moreno M, Boutry R, Caron E, Benfodda Z, Meffre P, Kerr-Conte J, Pattou F, Froguel P, ... Bonnefond A, et al. The transcription factor E2F1 controls the GLP-1 receptor pathway in pancreatic β cells. Cell Reports. 40: 111170. PMID 35947949 DOI: 10.1016/j.celrep.2022.111170  0.389
2022 Pelletier A, Carrier A, Zhao Y, Canouil M, Derhourhi M, Durand E, Berberian-Ferrato L, Greally J, Hughes F, Froguel P, Bonnefond A, Delahaye F. Epigenetic and Transcriptomic Programming of HSC Quiescence Signaling in Large for Gestational Age Neonates. International Journal of Molecular Sciences. 23. PMID 35806330 DOI: 10.3390/ijms23137323  0.331
2022 Bonnefond A, Semple RK. Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes. Diabetologia. PMID 35618782 DOI: 10.1007/s00125-022-05720-7  0.319
2022 Khamis A, Ning L, Balkau B, Bonnefond A, Canouil M, Roussel R, Froguel P. Epigenetic changes associated with hyperglycaemia exposure in the longitudinal D.E.S.I.R. cohort. Diabetes & Metabolism. 48: 101347. PMID 35427775 DOI: 10.1016/j.diabet.2022.101347  0.364
2022 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, et al. Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis. Orphanet Journal of Rare Diseases. 17: 86. PMID 35227307 DOI: 10.1186/s13023-022-02248-2  0.469
2022 Pervjakova N, Moen GH, Borges MC, Ferreira T, Cook JP, Allard C, Beaumont RN, Canouil M, Hatem G, Heiskala A, Joensuu A, Karhunen V, Kwak SH, Lin FTJ, Liu J, ... ... Bonnefond A, et al. Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes. Human Molecular Genetics. PMID 35220425 DOI: 10.1093/hmg/ddac050  0.473
2022 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, ... ... Bonnefond A, et al. Dominant negative mutation in oxalate transporter associated with enteric hyperoxaluria and nephrolithiasis. Journal of Medical Genetics. PMID 35115415 DOI: 10.1136/jmedgenet-2021-108256  0.379
2022 Wesolowska-Andersen A, Brorsson CA, Bizzotto R, Mari A, Tura A, Koivula R, Mahajan A, Vinuela A, Tajes JF, Sharma S, Haid M, Prehn C, Artati A, Hong MG, Musholt PB, ... ... Bonnefond A, et al. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study. Cell Reports. Medicine. 3: 100477. PMID 35106505 DOI: 10.1016/j.xcrm.2021.100477  0.463
2022 Tobi EW, Juvinao-Quintero DL, Ronkainen J, Ott R, Alfano R, Canouil M, Geurtsen ML, Khamis A, Küpers LK, Lim IY, Perron P, Pesce G, Tuhkanen J, Starling AP, Andrew T, ... ... Bonnefond A, et al. Maternal Glycemic Dysregulation During Pregnancy and Neonatal Blood DNA Methylation: Meta-analyses of Epigenome-Wide Association Studies. Diabetes Care. PMID 35104326 DOI: 10.2337/dc21-1701  0.314
2022 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, et al. Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan. Diabetes. PMID 35061034 DOI: 10.2337/db21-0373  0.467
2022 Bornaque F, Delannoy CP, Courty E, Rabhi N, Carney C, Rolland L, Moreno M, Gromada X, Bourouh C, Petit P, Durand E, Pattou F, Kerr-Conte J, Froguel P, Bonnefond A, et al. Glucose Regulates mA Methylation of RNA in Pancreatic Islets. Cells. 11. PMID 35053407 DOI: 10.3390/cells11020291  0.422
2021 Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, et al. Gain of function of Malate Dehydrogenase 2 (MDH2) and familial hyperglycemia. The Journal of Clinical Endocrinology and Metabolism. PMID 34718610 DOI: 10.1210/clinem/dgab790  0.471
2021 Hegron A, Huh E, Deupi X, Sokrat B, Gao W, Le Gouill C, Canouil M, Boissel M, Charpentier G, Roussel R, Balkau B, Froguel P, Plouffe B, Bonnefond A, Lichtarge O, et al. Identification of Key Regions Mediating Human Melatonin Type 1 Receptor Functional Selectivity Revealed by Natural Variants. Acs Pharmacology & Translational Science. 4: 1614-1627. PMID 34661078 DOI: 10.1021/acsptsci.1c00157  0.36
2021 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 Methylome. Diabetes Care. PMID 34116986 DOI: 10.2337/dc20-2960  0.453
2021 Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, ... ... Bonnefond A, et al. Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Nature Communications. 12: 995. PMID 33558525 DOI: 10.1038/s41467-021-21276-3  0.371
2021 Bonnefond A, Froguel P. Clustering for a better prediction of type 2 diabetes mellitus. Nature Reviews. Endocrinology. PMID 33526906 DOI: 10.1038/s41574-021-00475-4  0.396
2021 Lagou V, Mägi R, Hottenga JJ, Grallert H, Perry JRB, Bouatia-Naji N, Marullo L, Rybin D, Jansen R, Min JL, Dimas AS, Ulrich A, Zudina L, Gådin JR, Jiang L, ... ... Bonnefond A, et al. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability. Nature Communications. 12: 24. PMID 33402679 DOI: 10.1038/s41467-020-19366-9  0.381
2020 Vaxillaire M, Bonnefond A, Liatis S, Ben Salem Hachmi L, Jotic A, Boissel M, Gaget S, Durand E, Vaillant E, Derhourhi M, Canouil M, Larcher N, Allegaert F, Medlej R, Chadli A, et al. Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries. Diabetes Research and Clinical Practice. 108553. PMID 33242514 DOI: 10.1016/j.diabres.2020.108553  0.43
2020 Imam A, Winnebeck EC, Buchholz N, Froguel P, Bonnefond A, Solimena M, Ivanova A, Bouvier M, Plouffe B, Charpentier G, Karamitri A, Jockers R, Roenneberg T, Vetter C. Circadian, Sleep and Caloric Intake Phenotyping in Type 2 Diabetes Patients With Rare Melatonin Receptor 2 Mutations and Controls: A Pilot Study. Frontiers in Physiology. 11: 564140. PMID 33162895 DOI: 10.3389/fphys.2020.564140  0.406
2020 Bonnefond A, Boissel M, Bolze A, Durand E, Toussaint B, Vaillant E, Gaget S, Graeve F, Dechaume A, Allegaert F, Guilcher DL, Yengo L, Dhennin V, Borys JM, Lu JT, et al. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. Nature Metabolism. 2: 1126-1134. PMID 33046911 DOI: 10.1038/s42255-020-00294-3  0.512
2020 Baron M, Froguel P, Bonnefond A. [Something new in the genetics of monogenic obesity and its insights into pathophysiology]. Medecine Sciences : M/S. 36: 859-865. PMID 33026327 DOI: 10.1051/medsci/2020156  0.415
2020 Lemoine S, Eladari D, Juillard L, Bonnefond A, Froguel P, Dubourg L. The Case | Hypokalemia and severe renal loss of sodium. Kidney International. 97: 1305-1306. PMID 32444101 DOI: 10.1016/J.Kint.2019.12.022  0.373
2020 Saeed S, Arslan M, Manzoor J, Din SM, Janjua QM, Ayesha H, Ain QT, Inam L, Lobbens S, Vaillant E, Durand E, Derhourhi M, Amanzougarene S, Badreddine A, Berberian L, ... ... Bonnefond A, et al. Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence (≥49%) in an Inbred Population of Pakistan. Diabetes. PMID 32349990 DOI: 10.2337/Db19-1238  0.522
2020 El Shamieh S, Stathopoulou MG, Bonnefond A, Ndiaye NC, Lecoeur C, Meyre D, Dadé S, Chedid P, Salami A, Shahabi P, Dedoussis GV, Froguel P, Visvikis-Siest S. Obesity status modifies the association between rs7556897T>C in the intergenic region SLC19A3-CCL20 and blood pressure in French children. Clinical Chemistry and Laboratory Medicine. PMID 32238601 DOI: 10.1515/Cclm-2019-0292  0.482
2020 Tenenbaum M, Plaisance V, Boutry R, Pawlowski V, Jacovetti C, Sanchez-Parra C, Ezanno H, Bourry J, Beeler N, Pasquetti G, Gmyr V, Dalle S, Kerr-Conte J, Pattou F, Hirai SI, ... ... Bonnefond A, et al. The Map3k12 (Dlk)/JNK3 signaling pathway is required for pancreatic beta-cell proliferation during postnatal development. Cellular and Molecular Life Sciences : Cmls. PMID 32189007 DOI: 10.1007/S00018-020-03499-7  0.465
2020 Imam A, Winnebeck EC, Buchholz N, Froguel P, Bonnefond A, Solimena M, Ivanova A, Bouvier M, Plouffe B, Charpentier G, Karamitri A, Jockers R, Roenneberg T, Vetter C. Circadian, Sleep and Caloric Intake Phenotyping in Type 2 Diabetes Patients With Rare Melatonin Receptor 2 Mutations and Controls: A Pilot Study Frontiers in Physiology. 11. DOI: 10.3389/fphys.2020.564140  0.421
2019 Thériault S, Dina C, Messika-Zeitoun D, Le Scouarnec S, Capoulade R, Gaudreault N, Rigade S, Li Z, Simonet F, Lamontagne M, Clavel MA, Arsenault BJ, Boureau AS, Lecointe S, Baron E, ... ... Bonnefond A, et al. Genetic Association Analyses Highlight , , and As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis. Circulation. Genomic and Precision Medicine. 12: e002617. PMID 32141789 DOI: 10.1161/CIRCGEN.119.002617  0.353
2019 Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, ... ... Bonnefond A, et al. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. Nature Medicine. PMID 31700171 DOI: 10.1038/S41591-019-0622-0  0.724
2019 Schmidt AF, Holmes MV, Preiss D, Swerdlow DI, Denaxas S, Fatemifar G, Faraway R, Finan C, Valentine D, Fairhurst-Hunter Z, Hartwig FP, Horta BL, Hypponen E, Power C, Moldovan M, ... ... Bonnefond A, et al. Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9. Bmc Cardiovascular Disorders. 19: 240. PMID 31664920 DOI: 10.1186/S12872-019-1187-Z  0.456
2019 Bradfield JP, Vogelezang S, Felix JF, Chesi A, Helgeland Ø, Horikoshi M, Karhunen V, Lowry E, Cousminer DL, Ahluwalia TS, Thiering E, Boh ET, Zafarmand MH, Vilor-Tejedor N, Wang CA, ... ... Bonnefond A, et al. A Trans-ancestral Meta-Analysis of Genome-Wide Association Studies Reveals Loci Associated with Childhood Obesity. Human Molecular Genetics. PMID 31504550 DOI: 10.1093/Hmg/Ddz161  0.518
2019 Canouil M, Bouland GA, Bonnefond A, Froguel P, 't Hart LM, Slieker RC. NACHO: an R package for quality control of NanoString nCounter data. Bioinformatics (Oxford, England). PMID 31504159 DOI: 10.1093/Bioinformatics/Btz647  0.385
2019 Ndiaye FK, Huyvaert M, Ortalli A, Canouil M, Lecoeur C, Verbanck M, Lobbens S, Khamis A, Marselli L, Marchetti P, Kerr-Conte J, Pattou F, Marre M, Roussel R, Balkau B, ... ... Bonnefond A, et al. The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward. International Journal of Obesity (2005). PMID 31388097 DOI: 10.1038/S41366-019-0428-7  0.505
2019 Vaxillaire M, Froguel P, Bonnefond A. How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young. Current Diabetes Reports. 19: 79. PMID 31385057 DOI: 10.1007/S11892-019-1202-X  0.516
2019 Khamis A, Canouil M, Siddiq A, Crouch H, Falchi M, Bulow MV, Ehehalt F, Marselli L, Distler M, Richter D, Weitz J, Bokvist K, Xenarios I, Thorens B, Schulte AM, ... ... Bonnefond A, et al. Laser capture microdissection of human pancreatic islets reveals novel eQTLs associated with type 2 diabetes. Molecular Metabolism. PMID 30956117 DOI: 10.1016/J.Molmet.2019.03.004  0.538
2019 Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, Vasseur F. A Novel Rare Missense Variation of the Gene: Evidencesof Implication in Crohn's Disease. International Journal of Molecular Sciences. 20. PMID 30769939 DOI: 10.3390/Ijms20040835  0.434
2019 Bonnefond A, Froguel P, Study LESIRG. 29-OR: High Prevalence of Pathogenic Mutations in Genes Causing Monogenic Diabetes among Patients with Common Type 2 Diabetes Diabetes. 68. DOI: 10.2337/Db19-29-Or  0.542
2019 Imam A, Winnebeck E, Buchholz N, Froguel P, Bonnefond A, Solimena M, Ivanova A, Bouvier M, Plouffe B, Charpentier G, Karamitri A, Jockers R, Roenneberg T, Vetter C. Functional circadian and sleep phenotyping of type 2 diabetes patients with melatonin receptor 2 mutations and controls: a pilot study Sleep Medicine. 64: S166-S167. DOI: 10.1016/j.sleep.2019.11.460  0.42
2018 Parmar P, Lowry E, Cugliari G, Suderman M, Wilson R, Karhunen V, Andrew T, Wiklund P, Wielscher M, Guarrera S, Teumer A, Lehne B, Milani L, de Klein N, Mishra PP, ... ... Bonnefond A, et al. Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults. Ebiomedicine. PMID 30442561 DOI: 10.1016/J.Ebiom.2018.10.066  0.398
2018 Karamitri A, Plouffe B, Bonnefond A, Chen M, Gallion J, Guillaume JL, Hegron A, Boissel M, Canouil M, Langenberg C, Wareham NJ, Le Gouill C, Lukasheva V, Lichtarge O, Froguel P, et al. Type 2 diabetes-associated variants of the MT melatonin receptor affect distinct modes of signaling. Science Signaling. 11. PMID 30154102 DOI: 10.1126/Scisignal.Aan6622  0.494
2018 Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, ... ... Bonnefond A, et al. CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. Molecular Metabolism. PMID 29784605 DOI: 10.1016/J.Molmet.2018.05.005  0.499
2018 Abderrahmani A, Yengo L, Caiazzo R, Canouil M, Cauchi S, Raverdy V, Plaisance V, Pawlowski V, Lobbens S, Maillet J, Rolland L, Boutry R, Queniat G, Kwapich M, Tenenbaum M, ... ... Bonnefond A, et al. Increased Hepatic PDGF-AA Signaling Mediates Liver Insulin Resistance in Obesity Associated Type 2 Diabetes. Diabetes. PMID 29728363 DOI: 10.2337/Db17-1539  0.479
2018 Griscelli F, Ezanno H, Soubeyrand M, Feraud O, Oudrhiri N, Bonnefond A, Turhan AG, Froguel P, Bennaceur-Griscelli A. Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. Stem Cell Research. 29: 56-59. PMID 29597128 DOI: 10.1016/J.Scr.2018.02.017  0.528
2018 Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM, Din SM, Gaitan J, Milochau A, Durand E, Vaillant E, Haseeb A, De Graeve F, Rabearivelo I, Sand O, et al. Loss-of-function mutations in ADCY3 cause monogenic severe obesity. Nature Genetics. PMID 29311637 DOI: 10.1038/S41588-017-0023-6  0.512
2018 Tenenbaum M, Bonnefond A, Froguel P, Abderrahmani A. Physiopathologie du diabète Revue Francophone Des Laboratoires. 2018: 26-32. DOI: 10.1016/S1773-035X(18)30145-X  0.524
2017 Rabhi N, Hannou SA, Gromada X, Salas E, Yao X, Oger F, Carney C, Lopez-Mejia IC, Durand E, Rabearivelo I, Bonnefond A, Caron E, Fajas L, Dani C, Froguel P, et al. Cdkn2a deficiency promotes adipose tissue browning. Molecular Metabolism. PMID 29237539 DOI: 10.1016/J.Molmet.2017.11.012  0.525
2017 Foucan L, Larifla L, Durand E, Rambhojan C, Armand C, Michel CT, Billy R, Dhennin V, De Graeve F, Rabearivelo I, Sand O, Lacorte JM, Froguel P, Bonnefond A. High Prevalence of Rare Monogenic Forms of Obesity in Obese Guadeloupean Afro-Caribbean Children. The Journal of Clinical Endocrinology and Metabolism. PMID 29216354 DOI: 10.1210/Jc.2017-01956  0.463
2017 Bonnefond A, Froguel P. Disentangling the Role of Melatonin and its Receptor MTNR1B in Type 2 Diabetes: Still a Long Way to Go? Current Diabetes Reports. 17: 122. PMID 29063374 DOI: 10.1007/S11892-017-0957-1  0.539
2017 Hancili S, Bonnefond A, Philippe J, Vaillant E, De Graeve F, Sand O, Busiah K, Robert JJ, Polak M, Froguel P, Güven A, Vaxillaire M. A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome. Pediatric Diabetes. PMID 28940958 DOI: 10.1111/Pedi.12576  0.745
2017 Griscelli F, Feraud O, Ernault T, Oudrihri N, Turhan AG, Bonnefond A, Froguel P, Bennaceur-Griscelli A. Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. Stem Cell Research. 23: 178-181. PMID 28925365 DOI: 10.1016/J.Scr.2017.07.023  0.517
2017 Wheeler E, Leong A, Liu CT, Hivert MF, Strawbridge RJ, Podmore C, Li M, Yao J, Sim X, Hong J, Chu AY, Zhang W, Wang X, Chen P, Maruthur NM, ... ... Bonnefond A, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. Plos Medicine. 14: e1002383. PMID 28898252 DOI: 10.1371/Journal.Pmed.1002383  0.554
2017 Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, ... ... Bonnefond A, et al. Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Plos Genetics. 13: e1006972. PMID 28832619 DOI: 10.1371/Journal.Pgen.1006972  0.327
2017 Ndiaye FK, Ortalli A, Canouil M, Huyvaert M, Salazar-Cardozo C, Lecoeur C, Verbanck M, Pawlowski V, Boutry R, Durand E, Rabearivelo I, Sand O, Marselli L, Kerr-Conte J, Chandra V, ... ... Bonnefond A, et al. Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion. Molecular Metabolism. 6: 459-470. PMID 28580277 DOI: 10.1016/J.Molmet.2017.03.011  0.48
2017 Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, ... ... Bonnefond A, et al. Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis. The European Respiratory Journal. 49. PMID 28495692 DOI: 10.1183/13993003.02314-2016  0.446
2017 Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, ... ... Bonnefond A, et al. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Plos Genetics. 13: e1006528. PMID 28448500 DOI: 10.1371/Journal.Pgen.1006528  0.476
2017 Justice AE, Winkler TW, Feitosa MF, Graff M, Fisher VA, Young K, Barata L, Deng X, Czajkowski J, Hadley D, Ngwa JS, Ahluwalia TS, Chu AY, Heard-Costa NL, Lim E, ... ... Bonnefond A, et al. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nature Communications. 8: 14977. PMID 28443625 DOI: 10.1038/Ncomms14977  0.488
2017 Antúnez-Ortiz DL, Flores-Alfaro E, Burguete-García AI, Bonnefond A, Peralta-Romero J, Froguel P, Espinoza-Rojo M, Cruz M. Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children. Biomed Research International. 2017: 2432957. PMID 28428959 DOI: 10.1155/2017/2432957  0.481
2017 Saeed S, Bonnefond A, Manzoor J, Shabbir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. Obesity (Silver Spring, Md.). 25: 807. PMID 28349664 DOI: 10.1002/oby.21803  0.689
2017 Bonnefond A, Froguel P. The case for too little melatonin signalling in increased diabetes risk. Diabetologia. PMID 28314944 DOI: 10.1007/S00125-017-4255-X  0.527
2017 Bonnefond A, Yengo L, Dechaume A, Canouil M, Castelain M, Roger E, Allegaert F, Caiazzo R, Raverdy V, Pigeyre M, Arredouani A, Borys JM, Lévy-Marchal C, Weill J, Roussel R, et al. Relationship between salivary/pancreatic amylase and body mass index: a systems biology approach. Bmc Medicine. 15: 37. PMID 28228143 DOI: 10.1186/S12916-017-0784-X  0.444
2017 Tenenbaum M, Ezanno H, Plaisance V, Bricambert J, Boutry R, Beeler N, Bonnefond A, Kerr-Conte J, Pattou F, Froguel P, Abderrahmani A. C-Jun amino terminal kinase 3 (JNK3) contrôle la masse fonctionnelle de la cellule bêta en réponse à l’obésité Diabetes & Metabolism. 43. DOI: 10.1016/S1262-3636(17)30221-5  0.405
2017 Vaxillaire M, Lecoeur C, Durand E, Vaillant E, Toussaint B, Leloire A, Graeve FD, Rabearivelo I, Sand O, Bonnefond A, Froguel P. Mutations exomiques rares transmises au sein de familles de type MODY : analyse de corrélation avec la variabilité phénotypique et les défauts métaboliques précoces Diabetes & Metabolism. 43. DOI: 10.1016/S1262-3636(17)30152-0  0.488
2017 Ndiaye Fk, Ortalli A, Huyvaert M, Salazar-Cardozo C, Canouil M, Kerr-Conte J, Pattou F, Marselli L, Marchetti P, Scharfmann R, Froguel P, Bonnefond A. Identification de 4 nouveaux gènes à risque de diabète de type 2 modulant la fonction β pancréatique et l’insulino-sécrétion Diabetes & Metabolism. 43. DOI: 10.1016/S1262-3636(17)30151-9  0.443
2017 Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, ... ... Bonnefond A, et al. Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique Revue Des Maladies Respiratoires. 34. DOI: 10.1016/J.Rmr.2016.10.133  0.479
2016 Schmidt AF, Swerdlow DI, Holmes MV, Patel RS, Fairhurst-Hunter Z, Lyall DM, Hartwig FP, Horta BL, Hyppönen E, Power C, Moldovan M, van Iperen E, Hovingh GK, Demuth I, Norman K, ... ... Bonnefond A, et al. PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study. The Lancet. Diabetes & Endocrinology. PMID 27908689 DOI: 10.1016/S2213-8587(16)30396-5  0.519
2016 Bricambert J, Favre D, Brajkovic S, Bonnefond A, Boutry R, Salvi R, Plaisance V, Chikri M, Chinetti-Gbaguidi G, Staels B, Giusti V, Caiazzo R, Pattou F, Waeber G, Froguel P, et al. Impaired histone deacetylases 5 and 6 expression mimics the effects of obesity and hypoxia on adipocyte function. Molecular Metabolism. 5: 1200-1207. PMID 27900262 DOI: 10.1016/J.Molmet.2016.09.011  0.453
2016 Yengo L, Arredouani A, Marre M, Roussel R, Vaxillaire M, Falchi M, Haoudi A, Tichet J, Balkau B, Bonnefond A, Froguel P. Impact of statistical models on the prediction of type 2 diabetes using non-targeted metabolomics profiling. Molecular Metabolism. 5: 918-25. PMID 27689004 DOI: 10.1016/J.Molmet.2016.08.011  0.49
2016 Plaisance V, Brajkovic S, Tenenbaum M, Favre D, Ezanno H, Bonnefond A, Bonner C, Gmyr V, Kerr-Conte J, Gauthier BR, Widmann C, Waeber G, Pattou F, Froguel P, Abderrahmani A. Endoplasmic Reticulum Stress Links Oxidative Stress to Impaired Pancreatic Beta-Cell Function Caused by Human Oxidized LDL. Plos One. 11: e0163046. PMID 27636901 DOI: 10.1371/Journal.Pone.0163046  0.413
2016 Bonnefond A, Karamitri A, Jockers R, Froguel P. The Difficult Journey from Genome-wide Association Studies to Pathophysiology: The Melatonin Receptor 1B (MT2) Paradigm. Cell Metabolism. 24: 345-7. PMID 27626190 DOI: 10.1016/J.Cmet.2016.08.015  0.502
2016 Morandi A, Bonnefond A, Lobbens S, Yengo L, Miraglia Del Giudice E, Grandone A, Lévy-Marchal C, Weill J, Maffeis C, Froguel P. Associations between type 2 diabetes-related genetic scores and metabolic traits, in obese and normal-weight youths. The Journal of Clinical Endocrinology and Metabolism. jc20162432. PMID 27588439 DOI: 10.1210/Jc.2016-2432  0.555
2016 Vaxillaire M, Bonnefond A, Froguel P. Comment on Beltrand et al. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033-2041. Diabetes Care. 39: e153-4. PMID 27555630 DOI: 10.2337/Dc15-2703  0.504
2016 Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Bonnefond A, et al. Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 12: e1006166. PMID 27355579 DOI: 10.1371/Journal.Pgen.1006166  0.348
2016 Bonnefond A, Keller R, Meyre D, Stutzmann F, Thuillier D, Stefanov DG, Froguel P, Horber FF, Kral JG. Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A Six-Year Prospective Study. Diabetes Care. PMID 27222505 DOI: 10.2337/Dc16-0115  0.435
2016 Lamri A, Bonnefond A, Meyre D, Balkau B, Roussel R, Marre M, Froguel P, Fumeron F. Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study Nutrition Metabolism and Cardiovascular Diseases. 26: 931-936. PMID 27212621 DOI: 10.1016/J.Numecd.2016.04.010  0.481
2016 Rabhi N, Denechaud PD, Gromada X, Hannou SA, Zhang H, Rashid T, Salas E, Durand E, Sand O, Bonnefond A, Yengo L, Chavey C, Bonner C, Kerr-Conte J, Abderrahmani A, et al. KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response. Cell Reports. PMID 27117420 DOI: 10.1016/J.Celrep.2016.03.079  0.482
2016 Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J, Bataille V, Cousminer DL, Dastani Z, Drong AW, Esko T, Evans DM, Falchi M, Feitosa MF, Ferreira T, Hedman ÅK, ... ... Bonnefond A, et al. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nature Communications. 7: 10495. PMID 26833246 DOI: 10.1038/Ncomms10495  0.491
2016 Ndiaye F, Ortalli A, Verbanck M, Huyvaert M, Salazar-Cardozo C, Yengo L, Marselli L, Marchetti P, Froguel P, Bonnefond A. CO-68: L'étude génomique et fonctionnelle des gènes du diabète de type 2 confirme leur rôle dans les cellules beta-pancréatiques Diabetes & Metabolism. 42. DOI: 10.1016/S1262-3636(16)30086-6  0.481
2016 Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, ... ... Bonnefond A, et al. Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique Revue Du Rhumatisme. 83. DOI: 10.1016/S1169-8330(16)30345-3  0.431
2015 Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E, Chesi A, Gaillard R, Feenstra B, Thiering E, Kreiner-Møller E, Mahajan A, Pitkänen N, Joro R, Cavadino A, Huikari V, ... ... Bonnefond A, et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Human Molecular Genetics. PMID 26604143 DOI: 10.1093/Hmg/Ddv472  0.469
2015 Philippe J, Derhourhi M, Durand E, Vaillant E, Dechaume A, Rabearivelo I, Dhennin V, Vaxillaire M, De Graeve F, Sand O, Froguel P, Bonnefond A. What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? Plos One. 10: e0143373. PMID 26599467 DOI: 10.1371/Journal.Pone.0143373  0.726
2015 Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Bonnefond A, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 11: e1005378. PMID 26426971 DOI: 10.1371/Journal.Pgen.1005378  0.445
2015 Saeed S, Bonnefond A, Manzoor J, Shabir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P. Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. Obesity (Silver Spring, Md.). 23: 1687-95. PMID 26179253 DOI: 10.1002/Oby.21142  0.726
2015 Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, ... ... Bonnefond A, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 523: 459-62. PMID 26131930 DOI: 10.1038/Nature14618  0.455
2015 Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array. American Journal of Medical Genetics. Part A. 167: 2720-6. PMID 26109092 DOI: 10.1002/Ajmg.A.37222  0.419
2015 Bonnefond A, Yengo L, Le May C, Fumeron F, Marre M, Balkau B, Charpentier G, Franc S, Froguel P, Cariou B. The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis. Diabetologia. PMID 26049403 DOI: 10.1007/S00125-015-3659-8  0.519
2015 Bonnefond A, Lamri A, Leloire A, Vaillant E, Roussel R, Lévy-Marchal C, Weill J, Galan P, Hercberg S, Ragot S, Hadjadj S, Charpentier G, Balkau B, Marre M, Fumeron F, et al. Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels. Journal of Medical Genetics. 52: 595-8. PMID 26025001 DOI: 10.1136/Jmedgenet-2015-103065  0.513
2015 Bonnefond A, Froguel P. Rare and common genetic events in type 2 diabetes: what should biologists know? Cell Metabolism. 21: 357-68. PMID 25640731 DOI: 10.1016/J.Cmet.2014.12.020  0.537
2015 Mejía-Benítez MA, Bonnefond A, Yengo L, Huyvaert M, Dechaume A, Peralta-Romero J, Klünder-Klünder M, García Mena J, El-Sayed Moustafa JS, Falchi M, Cruz M, Froguel P. Beneficial effect of a high number of copies of salivary amylase AMY1 gene on obesity risk in Mexican children. Diabetologia. 58: 290-4. PMID 25394825 DOI: 10.1007/S00125-014-3441-3  0.507
2015 Philippe J, Stijnen P, Meyre D, De Graeve F, Thuillier D, Delplanque J, Gyapay G, Sand O, Creemers JW, Froguel P, Bonnefond A. A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity. International Journal of Obesity (2005). 39: 295-302. PMID 24890885 DOI: 10.1038/Ijo.2014.96  0.714
2015 Neve B, Ortalli A, Leloire A, Feraud O, Pasquetti G, Vaxillaire M, Bonnefond A, Bennaceur-Griscelli A, Kerr-Conte J, Froguel P. P202 Utilisation des cellules souches somatiques pour modéliser le diabète monogénique lié aux anomalies du canal potassique de KCNJ11 Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30315-3  0.508
2015 Mejia MA, Yengo L, Lobbens S, Valladares-Salgado A, Eralta J, Garcia J, Cruz M, Froguel P, Bonnefond A. PO11 Deux nouveaux loci associés au diabète de type 2 dans la population mexicaine identifiés par les puces Metabochip Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30088-4  0.32
2015 Vaxillaire M, Bonnefond A, Philippe J, Vaillant E, Durand E, Sand O, Busiah K, Scharfmann R, Hafez M, Hancili S, Polak M, Froguel P. O59 Identification de nouvelles mutations associées au diabète néonatal grâce à l’utilisation de techniques (pan) génomiques incluant le séquençage de nouvelle génération Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30059-8  0.687
2015 Bonnefond A, Yengo L, Balkau B, Marre M, Brousseau T, Froguel P. O52 L’activité enzymatique plasmatique de l’amylase pancréatique est associée à une diminution de l’indice de masse corporelle et protège du risque de diabète dans la cohorte D.E.S.I.R. Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30052-5  0.467
2015 Cariou B, Yengo L, May CL, Marre M, Balkau B, Franc S, Froguel P, Bonnefond A. O06 Le mutant perte de fonction p.R46L de PCSK9 n’est pas associé à un risque accru de diabète chez l’homme Diabetes & Metabolism. 41. DOI: 10.1016/S1262-3636(15)30006-9  0.323
2014 Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A. Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay. Obesity (Silver Spring, Md.). 22: 2621-4. PMID 25234154 DOI: 10.1002/Oby.20886  0.49
2014 Vaxillaire M, Yengo L, Lobbens S, Rocheleau G, Eury E, Lantieri O, Marre M, Balkau B, Bonnefond A, Froguel P. Type 2 diabetes-related genetic risk scores associated with variations in fasting plasma glucose and development of impaired glucose homeostasis in the prospective DESIR study. Diabetologia. 57: 1601-10. PMID 24893864 DOI: 10.1007/S00125-014-3277-X  0.539
2014 Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L, Ozdemir E, So HC, Davies RW, Patrice A, Dent R, et al. Low copy number of the salivary amylase gene predisposes to obesity. Nature Genetics. 46: 492-7. PMID 24686848 DOI: 10.1038/Ng.2939  0.511
2014 Abdelalim EM, Bonnefond A, Bennaceur-Griscelli A, Froguel P. Pluripotent stem cells as a potential tool for disease modelling and cell therapy in diabetes. Stem Cell Reviews. 10: 327-37. PMID 24577791 DOI: 10.1007/S12015-014-9503-6  0.504
2014 Saeed S, Bonnefond A, Manzoor J, Philippe J, Durand E, Arshad M, Sand O, Butt TA, Falchi M, Arslan M, Froguel P. Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing. Obesity (Silver Spring, Md.). 22: 1112-7. PMID 24319006 DOI: 10.1002/Oby.20667  0.717
2014 Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martínez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, et al. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care. 37: 460-7. PMID 24041679 DOI: 10.2337/Dc13-0698  0.737
2014 Bonnefond A, Saeed S, Manzoor J, Philippe J, Durand E, Sand O, Butt T, Falchi M, Arslan M, Froguel P. PO13 Identification par séquençage de nouvelle génération de deux nouvelles mutations situées dans LEPR, chez des enfants pakistanais avec une obésité sévère et issus de familles consanguines Diabetes & Metabolism. 40. DOI: 10.1016/S1262-3636(14)72271-2  0.715
2014 Vaxillaire M, Yengo L, Lobbens S, Rocheleau G, Eury E, Lantieri O, Marre M, Balkau B, Bonnefond A, Froguel P. O31 Deux scores de risque génétique sont fortement associés aux variations de glycémie à jeun et à l’incidence d’hyperglycémie et de diabète de type 2 dans l’étude prospective D.E.S.I.R Diabetes & Metabolism. 40. DOI: 10.1016/S1262-3636(14)72205-0  0.481
2014 Rabhi N, Denechaud P, Salas E, Bonnefond A, Bettignies CD, Froguel P, Annicotte J. O5 La lysine acetyl-transferase P300/CBP-associated factor (PCAF) contrôle la sécrétion d’insuline et la réponse au stress du reticulum Diabetes & Metabolism. 40. DOI: 10.1016/S1262-3636(14)72179-2  0.467
2013 Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, et al. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. The Lancet. Diabetes & Endocrinology. 1: 199-207. PMID 24622368 DOI: 10.1016/S2213-8587(13)70059-7  0.525
2013 Bonnefond A, Froguel P. Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck. Genome Biology. 14: 309. PMID 23899211 DOI: 10.1186/Gb-2013-14-7-309  0.464
2013 Bonnefond A, Skrobek B, Lobbens S, Eury E, Thuillier D, Cauchi S, Lantieri O, Balkau B, Riboli E, Marre M, Charpentier G, Yengo L, Froguel P. Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications. Nature Genetics. 45: 1040-3. PMID 23852171 DOI: 10.1038/Ng.2700  0.526
2013 Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, et al. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. The Journal of Clinical Investigation. 123: 3037-41. PMID 23778136 DOI: 10.1172/Jci68035  0.508
2013 Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, Workalemahu T, Feitosa MF, Croteau-Chonka DC, Day FR, Fall T, ... ... Bonnefond A, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. Plos Genetics. 9: e1003500. PMID 23754948 DOI: 10.1371/Journal.Pgen.1003500  0.471
2013 Bonnefond A, Vaillant E, Philippe J, Skrobek B, Lobbens S, Yengo L, Huyvaert M, Cavé H, Busiah K, Scharfmann R, Polak M, Abdul-Rasoul M, Froguel P, Vaxillaire M. Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family. Diabetes & Metabolism. 39: 276-80. PMID 23562494 DOI: 10.1016/J.Diabet.2013.02.007  0.748
2013 Baerenwald DA, Bonnefond A, Bouatia-Naji N, Flemming BP, Umunakwe OC, Oeser JK, Pound LD, Conley NL, Cauchi S, Lobbens S, Eury E, Balkau B, Lantieri O, Dadi PK, et al. Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels. Diabetologia. 56: 1306-16. PMID 23508304 DOI: 10.1007/S00125-013-2875-3  0.43
2013 Bonnefond A, Saulnier PJ, Stathopoulou MG, Grarup N, Ndiaye NC, Roussel R, Nezhad MA, Dechaume A, Lantieri O, Hercberg S, Lauritzen T, Balkau B, El-Sayed Moustafa JS, Hansen T, Pedersen O, et al. What is the contribution of two genetic variants regulating VEGF levels to type 2 diabetes risk and to microvascular complications? Plos One. 8: e55921. PMID 23405237 DOI: 10.1371/Journal.Pone.0055921  0.495
2013 Mejía-Benítez A, Klünder-Klünder M, Yengo L, Meyre D, Aradillas C, Cruz E, Pérez-Luque E, Malacara JM, Garay ME, Peralta-Romero J, Flores-Huerta S, García-Mena J, Froguel P, Cruz M, Bonnefond A. Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children. Bmc Medical Genetics. 14: 21. PMID 23375129 DOI: 10.1186/1471-2350-14-21  0.5
2013 Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E, Gjesing AP, Andersson EA, Czernichow S, Hercberg S, Hadjadj S, Charpentier G, Lantieri O, Balkau B, Marre M, et al. Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes. Diabetologia. 56: 492-6. PMID 23224494 DOI: 10.1007/S00125-012-2794-8  0.747
2013 Robiou-du-Pont S, Bonnefond A, Yengo L, Vaillant E, Lobbens S, Durand E, Weill J, Lantieri O, Balkau B, Charpentier G, Marre M, Froguel P, Meyre D. Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population International Journal of Obesity. 37: 980-985. PMID 23090577 DOI: 10.1038/Ijo.2012.175  0.547
2013 Froguel P, Bonnefond A. Does Type 2 diabetes increase the risk of developing cancer Diabetes Management. 3: 439-441. DOI: 10.2217/Dmt.13.49  0.454
2013 Philippe J, Durand E, Vaxillaire M, Sand O, De Graeve F, Cavé H, Polak M, Martínez Salazar R, Castano L, Muller J, Mandel J, Saeed S, Bonnefond A, Froguel P. PO27 Diagnostic moléculaire simultané de 43 formes monogéniques de diabète et d’obésité : un pas vers la médecine métabolique Personnalisée Diabetes & Metabolism. 39: A27. DOI: 10.1016/S1262-3636(13)71723-3  0.679
2013 Bonnefond A, Skrobek B, Lobbens S, Eury E, Balkau B, Riboli E, Marre M, Charpentier G, Yengo L, Froguel P. O61 Le diabète de type 2 est responsable d’anomalies chromosomiques somatiques en mosaïques qui sont pré-cancéreuses Diabetes & Metabolism. 39. DOI: 10.1016/S1262-3636(13)71673-2  0.48
2013 Annicotte J-, Denechaud P-, Rabhi N, Bonnefond A, Bettignies CD, Froguel P. O50 La protéine P300/CBP-associated factor (PCAF) est une histone acetyl-transferase qui contrôle la fonction de la cellule ß pancréatique Diabetes & Metabolism. 39. DOI: 10.1016/S1262-3636(13)71662-8  0.485
2012 Bonnefond A, Sand O, Guerin B, Durand E, De Graeve F, Huyvaert M, Rachdi L, Kerr-Conte J, Pattou F, Vaxillaire M, Polak M, Scharfmann R, Czernichow P, Froguel P. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. Diabetologia. 55: 2845-7. PMID 22806356 DOI: 10.1007/S00125-012-2645-7  0.533
2012 Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, et al. Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. Plos One. 7: e37423. PMID 22701567 DOI: 10.1371/Journal.Pone.0037423  0.721
2012 Vaxillaire M, Bonnefond A, Froguel P. The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Practice & Research. Clinical Endocrinology & Metabolism. 26: 171-87. PMID 22498247 DOI: 10.1016/J.Beem.2011.12.001  0.543
2012 Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Bonnefond A, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607  0.497
2012 Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, et al. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nature Genetics. 44: 456-60, S1-3. PMID 22406640 DOI: 10.1038/Ng.2218  0.457
2012 Froguel P, Ndiaye NC, Bonnefond A, Bouatia-Naji N, Dechaume A, Siest G, Herbeth B, Falchi M, Bottolo L, Guéant-Rodriguez RM, Lecoeur C, Langlois MR, Labrune Y, Ruokonen A, El Shamieh S, et al. A genome-wide association study identifies rs2000999 as a strong genetic determinant of circulating haptoglobin levels. Plos One. 7: e32327. PMID 22403646 DOI: 10.1371/Journal.Pone.0032327  0.489
2012 Ichimura A, Hirasawa A, Poulain-Godefroy O, Bonnefond A, Hara T, Yengo L, Kimura I, Leloire A, Liu N, Iida K, Choquet H, Besnard P, Lecoeur C, Vivequin S, Ayukawa K, et al. Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human. Nature. 483: 350-4. PMID 22343897 DOI: 10.1038/Nature10798  0.484
2012 Bonnefond A, Clément N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, Dechaume A, Payne F, Roussel R, Czernichow S, Hercberg S, Hadjadj S, Balkau B, Marre M, Lantieri O, et al. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nature Genetics. 44: 297-301. PMID 22286214 DOI: 10.1038/Ng.1053  0.518
2012 Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP, Ferrara A, ... ... Bonnefond A, et al. A genome-wide association search for type 2 diabetes genes in African Americans. Plos One. 7: e29202. PMID 22238593 DOI: 10.1371/Journal.Pone.0029202  0.496
2012 Walley AJ, Jacobson P, Falchi M, Bottolo L, Andersson JC, Petretto E, Bonnefond A, Vaillant E, Lecoeur C, Vatin V, Jernas M, Balding D, Petteni M, Park YS, Aitman T, et al. Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue. International Journal of Obesity (2005). 36: 137-47. PMID 21427694 DOI: 10.1038/Ijo.2011.22  0.485
2012 Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, et al. Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (Nature Genetics (2012) 44 (458-462)) Nature Genetics. 44. DOI: 10.1038/Ng0512-609  0.448
2012 Polak M, Cavé H, Busiah K, Bonnefond A, Simon A, Flechtner I, Dechaume A, Pouvreau N, Gerard B, Scharfmann R, Froguel P, Vaxillaire M. Diabète néonatal (monogénique de la très petite enfance). État des travaux du Réseau Français d’étude du diabète néonatal. Diabetes & Metabolism. 38. DOI: 10.1016/S1262-3636(12)71525-2  0.489
2012 Vaxillaire M, Bonnefond A, Philippe J, Durand E, Dechaume A, Vaillant E, Montagne L, Huyvaert M, Lecoeur C, Graeve FD, Sand O, Froguel P. O58 Une nouvelle cause curable de MODY et de DT2 de l’adulte jeune révélée par une mutation de KCNJ11, codant la sous-unité Kir6.2 du canal potassique ATP-dépendant Diabetes & Metabolism. 38. DOI: 10.1016/S1262-3636(12)71036-4  0.728
2012 Moustafa JE, Takousis P, Pesce F, Bonnefond A, Carlsson L, Walley A, Pattou F, Spector T, Falchi M, Froguel P. O57 Des variations du nombre de copies au niveau d’un CNV fréquent contribuent très fortement au risque d’obésité Diabetes & Metabolism. 38. DOI: 10.1016/S1262-3636(12)71035-2  0.315
2012 Bonnefond A, Poulain-Godefroy O, Ichimura A, Hirasawa A, Yengo L, Leloire A, Choquet H, Meyre D, Pattou F, Wolowczuk I, Tsujimoto G, Froguel P. O53 L’altération du récepteur des acides gras insaturés de type omega-3 GPR120 entraîne une obésité chez l’Homme et la Souris Diabetes & Metabolism. 38. DOI: 10.1016/S1262-3636(12)71031-5  0.479
2011 Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, Lopez LM, Mägi R, Meacham S, Okada Y, Pirastu N, ... ... Bonnefond A, et al. New gene functions in megakaryopoiesis and platelet formation. Nature. 480: 201-8. PMID 22139419 DOI: 10.1038/Nature10659  0.44
2011 Semplici F, Vaxillaire M, Fogarty S, Semache M, Bonnefond A, Fontés G, Philippe J, Meur G, Diraison F, Sessions RB, Rutter J, Poitout V, Froguel P, Rutter GA. Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion. The Journal of Biological Chemistry. 286: 44005-14. PMID 22065581 DOI: 10.1074/Jbc.M111.254995  0.726
2011 Gjesing AP, Nielsen AA, Brandslund I, Christensen C, Sandbæk A, Jørgensen T, Witte D, Bonnefond A, Froguel P, Hansen T, Pedersen O. Studies of a genetic variant in HK1 in relation to quantitative metabolic traits and to the prevalence of type 2 diabetes. Bmc Medical Genetics. 12: 99. PMID 21781351 DOI: 10.1186/1471-2350-12-99  0.4
2011 Bonnefond A, Lomberk G, Buttar N, Busiah K, Vaillant E, Lobbens S, Yengo L, Dechaume A, Mignot B, Simon A, Scharfmann R, Neve B, Tanyolaç S, Hodoglugil U, Pattou F, et al. Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. The Journal of Biological Chemistry. 286: 28414-24. PMID 21592955 DOI: 10.1074/Jbc.M110.215822  0.514
2011 Bonnefond A, Lomberk G, Busiah K, Vaillant E, Pattou F, Iovanna J, Stein R, Polak M, Vaxillaire M, Urrutia R, Froguel P. O2 L’extinction de la biosynthèse d’insuline via l’altération d’un site de fixation du facteur de transcription KLF11 entraîne une forme congénitale de diabète néonatal Diabetes & Metabolism. 37. DOI: 10.1016/S1262-3636(11)70490-6  0.495
2010 Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanné-Chantelot C, Létourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, et al. Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. Plos One. 5: e13630. PMID 21049026 DOI: 10.1371/Journal.Pone.0013630  0.509
2010 Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, Sandhu MS, Heeney MM, Devaney JM, Reilly MP, Ricketts SL, ... ... Bonnefond A, et al. Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes. 59: 3229-39. PMID 20858683 DOI: 10.2337/Db10-0502  0.495
2010 Bonnefond A, Froguel P, Vaxillaire M. The emerging genetics of type 2 diabetes. Trends in Molecular Medicine. 16: 407-16. PMID 20728409 DOI: 10.1016/J.Molmed.2010.06.004  0.562
2010 Bouatia-Naji N, Bonnefond A, Baerenwald DA, Marchand M, Bugliani M, Marchetti P, Pattou F, Printz RL, Flemming BP, Umunakwe OC, Conley NL, Vaxillaire M, Lantieri O, Balkau B, Marre M, et al. Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels. Diabetes. 59: 2662-71. PMID 20622168 DOI: 10.2337/Db10-0389  0.446
2010 Andersson EA, Holst B, Sparsø T, Grarup N, Banasik K, Holmkvist J, Jørgensen T, Borch-Johnsen K, Egerod KL, Lauritzen T, Sørensen TI, Bonnefond A, Meyre D, Froguel P, Schwartz TW, et al. MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans. Diabetes. 59: 1539-48. PMID 20200315 DOI: 10.2337/Db09-1757  0.526
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Bonnefond A, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nature Genetics. 42: 105-16. PMID 20081858 DOI: 10.1038/Ng.520  0.525
2010 Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, ... ... Bonnefond A, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics. 42: 142-8. PMID 20081857 DOI: 10.1038/Ng.521  0.477
2010 Meur G, Simon A, Harun N, Virally M, Dechaume A, Bonnefond A, Fetita S, Tarasov AI, Guillausseau PJ, Boesgaard TW, Pedersen O, Hansen T, Polak M, Gautier JF, Froguel P, et al. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes. 59: 653-61. PMID 20007936 DOI: 10.2337/Db09-1091  0.557
2010 Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, ... ... Bonnefond A, et al. Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics. 42: 464-464. DOI: 10.1038/Ng0510-464A  0.52
2010 Vaxillaire M, Busiah K, Bonnefond A, Lecoeur C, Dechaume A, Simon A, Graeve Fd, Gallina S, Delplanque J, Cavé H, Polak M, Froguel P. P210 Nouvelles Approches dans l’Étude des Diabètes Monogéniques chez l’Enfant et l’Adulte Jeune, et Distribution des Étiologies Génétiques à partir de la Cohorte du Réseau d’Étude Français Diabetes & Metabolism. 36. DOI: 10.1016/S1262-3636(10)70358-X  0.498
2010 Bonnefond A, Lomberk G, Busiah K, Dechaume A, Pereira S, Simon A, Cavé H, Mignot B, Polak M, Urrutia R, Froguel P, Vaxillaire M. O9 L’Extinction de l’Activité du Promoteur du Gène de l’Insuline Entraîne une Forme Congénitale de Diabète Néonatal Transitoire Diabetes & Metabolism. 36. DOI: 10.1016/S1262-3636(10)70013-6  0.497
2009 Bouatia-Naji N, Bonnefond A, Froguel P. [Inputs from the genetics of fasting glucose: lessons for diabetes]. Medecine Sciences : M/S. 25: 897-902. PMID 19951660 DOI: 10.1051/Medsci/20092511897  0.511
2009 Bonnefond A, Vaxillaire M, Labrune Y, Lecoeur C, Chèvre JC, Bouatia-Naji N, Cauchi S, Balkau B, Marre M, Tichet J, Riveline JP, Hadjadj S, Gallois Y, Czernichow S, Hercberg S, et al. Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits. Diabetes. 58: 2687-97. PMID 19651813 DOI: 10.2337/Db09-0652  0.458
2009 Vaxillaire M, D P, Bonnefond A, Froguel P. Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes. Pediatric Endocrinology Reviews : Per. 6: 405-17. PMID 19396026  0.479
2009 Sparsø T, Bonnefond A, Andersson E, Bouatia-Naji N, Holmkvist J, Wegner L, Grarup N, Gjesing AP, Banasik K, Cavalcanti-Proença C, Marchand M, Vaxillaire M, Charpentier G, Jarvelin MR, Tichet J, et al. G-allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605 Europeans. Diabetes. 58: 1450-6. PMID 19324940 DOI: 10.2337/Db08-1660  0.519
2009 Bonnefond A, Bouatia-Naji N, Simon A, Saint-Martin C, Dechaume A, Lonlay Pd, Polak M, Bellanné-Chantelot C, Froguel P, Vaxillaire M. Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction Diabetologia. 52: 982-985. PMID 19238352 DOI: 10.1007/S00125-009-1299-6  0.522
2009 Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Sparsø T, Holmkvist J, Marchand M, Delplanque J, Lobbens S, Rocheleau G, Durand E, De Graeve F, Chèvre JC, Borch-Johnsen K, Hartikainen AL, Ruokonen A, et al. A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nature Genetics. 41: 89-94. PMID 19060909 DOI: 10.1038/Ng.277  0.516
2009 Bonnefond A, Bouatia-Naji N, Cavalcanti-Proença C, Marchand M, Oeser J, Lévy-Marchal C, Balkau B, Marre M, Pattou F, Jarvelin MR, O’Brien R, Froguel P. O98 Des variants du promoteur du gène G6PC2 pourraient expliquer la contribution de ce locus au contrôle génétique de la glycémie Diabetes & Metabolism. 35. DOI: 10.1016/S1262-3636(09)71790-2  0.476
2009 Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Jarvelin MR, Charpentier G, Hadjadj S, Lévy-Marchal C, Balkau B, Marre M, Visvikis-Siest S, Pedersen O, Froguel P. O97 Des variants du gène MTNR1B du récepteur 2 à la mélatonine augmentent la glycémie et le risque de DT2 : un lien entre le rythme circadien et le diabète ? Diabetes & Metabolism. 35. DOI: 10.1016/S1262-3636(09)71789-6  0.464
2009 Vaxillaire M, Simon A, Bonnefond A, Virally M, Dechaume A, Busiah K, Cavé H, Scharfmann R, Rutter G, Gautier JF, Froguel P, Polak M. O5 Des mutations du gène de la préproinsuline altèrent la maturation de l’insuline et entraînent un diabète non auto-immun chez l’enfant et de type Mody Diabetes & Metabolism. 35. DOI: 10.1016/S1262-3636(09)71697-0  0.529
2008 Taha D, Bardise J, Hegab A, Bonnefond A, Marchand M, Drunat S, Vaxillaire M, Polak M. Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. Pediatric Diabetes. 9: 240-4. PMID 18547237 DOI: 10.1111/J.1399-5448.2007.00365.X  0.392
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