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Functional genomics of non-coding mutations in regulatory regions of four metabolic tissues, and their involvement into type 2 diabetes through large-scale sequencing


The expression of genes in top obesity-associated loci is enriched in insula and substantia nigra brain regions involved in addiction and reward.

Author(s): Ndiaye, Fatou K.; Huyvaert, Marlène; Ortalli, Ana; Canouil, Mickaël; Lecoeur, Cécile; Verbanck, Marie; Lobbens, Stéphane; Khamis, Amna; Marselli, Lorella; Marchetti, Piero; Kerr-Conte, Julie; Pattou, François; Marre, Michel; Roussel, Ronan; Balkau, Beverley; Froguel, Philippe; Bonnefond, Amélie
Published in: Internation Journal of Obesity, Issue 3, 2020, ISSN 1476-5497
Publisher: Nature Publishing
DOI: 10.1038/s41366-019-0428-7

Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes

Author(s): Amélie Bonnefond, Robert K Semple
Published in: Diabetologia, 2022, ISSN 1432-0428
Publisher: Springer Nature
DOI: 10.1007/s00125-022-05720-7

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Author(s): Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre , Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Published in: Orphanet Journal of Rare Diseases, 2022, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-022-02248-2

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

Author(s): Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Fro
Published in: Molecular Metabolism, Issue 13, 2018, Page(s) 1-9, ISSN 2212-8778
Publisher: Elsevier GmbH
DOI: 10.1016/j.molmet.2018.05.005

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

Author(s): Morgane Baron, Julie Maillet, Marlène Huyvaert, Aurélie Dechaume, Raphaël Boutry, Hélène Loiselle, Emmanuelle Durand, Bénédicte Toussaint, Emmanuel Vaillant, Julien Philippe, Jérémy Thomas, Amjad Ghulam, Sylvia Franc, Guillaume Charpentier, Jean-Michel Borys, Claire Lévy-Marchal, Maïthé Tauber, Raphaël Scharfmann, Jacques Weill, Cécile Aubert, Julie Kerr-Conte, François Pattou, Rona
Published in: Nature Medicine, Issue 25/11, 2019, Page(s) 1733-1738, ISSN 1078-8956
Publisher: Nature Publishing Group
DOI: 10.1038/s41591-019-0622-0

Dominant negative mutation in oxalate transporter <i>SLC26A6</i> associated with enteric hyperoxaluria and nephrolithiasis

Author(s): Nicolas Cornière; R Brent Thomson; Stéphanie Thauvin; Bruno O Villoutreix; Sophie Karp; Diane W Dynia; Sarah Burlein; Lennart Brinkmann; Alaa Badreddine; Aurélie Dechaume; Mehdi Derhourhi; Emmanuelle Durand; Emmanuel Vaillant; Philippe Froguel; Régine Chambrey; Peter S Aronson; Amélie Bonnefond; Dominique Eladari
Published in: J Med Genet, Issue 2, 2022, ISSN 1468-6244
Publisher: BMJ
DOI: 10.1136/jmedgenet-2021-108256

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.

Author(s): Amélie Bonnefond; Amélie Bonnefond; Mathilde Boissel; Alexandre Bolze; Emmanuelle Durand; Bénédicte Toussaint; Emmanuel Vaillant; Stefan Gaget; Franck De Graeve; Aurélie Dechaume; Frédéric Allegaert; David Le Guilcher; Loic Yengo; Loic Yengo; Véronique Dhennin; Jean-Michel Borys; James T. Lu; Elizabeth T. Cirulli; Gai Elhanan; Ronan Roussel; Ronan Roussel; Beverley Balkau; Beverley Balkau;
Published in: Nature Metabolism, Issue 3, 2020, ISSN 2522-5812
Publisher: Nature Publishing
DOI: 10.1038/s42255-020-00294-3

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