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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

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Publications

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

Author(s): 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 Va
Published in: Nature Metabolism, 2/10, 2020, Page(s) 1126-1134, ISSN 2522-5812
Publisher: Nature Publishing Group
DOI: 10.1038/s42255-020-00294-3

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, 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, 25/11, 2019, Page(s) 1733-1738, ISSN 1078-8956
Publisher: Nature Publishing Group
DOI: 10.1038/s41591-019-0622-0

Clustering for a better prediction of type 2 diabetes mellitus

Author(s): Amélie Bonnefond, Philippe Froguel
Published in: Nature Reviews Endocrinology, 17/4, 2021, Page(s) 193-194, ISSN 1759-5029
Publisher: Nature Publishing Group
DOI: 10.1038/s41574-021-00475-4