Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

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

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

por Montagne, Louise, Derhourhi, Mehdi, Piton, Amélie, Toussaint, Bénédicte, Durand, Emmanuelle, Vaillant, Emmanuel, Thuillier, Dorothée, Gaget, Stefan, De Graeve, Franck, Rabearivelo, Iandry, Lansiaux, Amélie, Lenne, Bruno, Sukno, Sylvie, Desailloud, Rachel, Cnop, Miriam, Nicolescu, Ramona, Cohen, Lior, Zagury, Jean-François, Amouyal, Mélanie, Weill, Jacques, Muller, Jean, Sand, Olivier, Delobel, Bruno, Froguel, Philippe, Bonnefond, Amélie
Publicado 2018