Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

le Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Foilsithe 2010

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

le Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence
Foilsithe 2008

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

le Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence
Foilsithe 2009