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

Tekijä 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
Julkaistu 2012

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

Tekijä 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
Julkaisussa Mol Metab (2018)