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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

Publications

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
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
DOI: 10.1038/s41591-019-0622-0