What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

by Julien Philippe, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Aurélie Dechaume, Iandry Rabearivelo, Véronique Dhennin, Martine Vaxillaire, Franck De Graeve, Olivier Sand, Philippe Froguel, Amélie Bonnefond
Published 2015-01-01

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

by Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, Franck De Graeve, Sophie Gallina, Kanetee Busiah, Stéphane Lobbens, Albane Simon, Christine Bellanné-Chantelot, Louis Létourneau, Raphael Scharfmann, Jérôme Delplanque, Robert Sladek, Michel Polak, Martine Vaxillaire, Philippe Froguel
Published 2010-10-01

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

by Amélie Bonnefond, Julien Philippe, Emmanuelle Durand, Aurélie Dechaume, Marlène Huyvaert, Louise Montagne, Michel Marre, Beverley Balkau, Isabelle Fajardy, Anne Vambergue, Vincent Vatin, Jérôme Delplanque, David Le Guilcher, Franck De Graeve, Cécile Lecoeur, Olivier Sand, Martine Vaxillaire, Philippe Froguel
Published 2012-01-01

Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.

by Stéphane Cauchi, David Meyre, Emmanuelle Durand, Christine Proença, Michel Marre, Samy Hadjadj, Hélène Choquet, Franck De Graeve, Stefan Gaget, Frederic Allegaert, Jérôme Delplanque, Marshall Alan Permutt, Jon Wasson, Ilana Blech, Guillaume Charpentier, Beverley Balkau, Anne-Claire Vergnaud, Sébastien Czernichow, Wolfgang Patsch, Mohamed Chikri, Benjamin Glaser, Robert Sladek, Philippe Froguel
Published 2008-05-01

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

by 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 Froguel, Amélie Bonnefond
Published 2018-07-01