1. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. Issue 6 (23rd April 2013) Authors: Mosca‐Boidron, Anne‐Laure; Valduga, Mylène; Thauvin‐Robinet, Christel; Lagarde, Nathalie; Marle, Nathalie; Henry, Céline; Pinoit, Jean‐Michel; Huet, Frédéric; Béri‐Deixheimer, Mylène; Ragon, Clémence; Gueneau, Lucie; Payet, Muriel; Callier, Patrick; Mugneret, Francine; Jonveaux, Philippe; Faivre,... Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH. (9th February 2022) Authors: Tisserant, Emilie; Vitobello, Antonio; Callegarin, Davide; Verdez, Simon; Bruel, Ange‐line; Aho Glele, Ludwig Serge; Sorlin, Arthur; Viora‐Dupont, Eleonore; Konyukh, Marina; Marle, Nathalie; Nambot, Sophie; Moutton, Sébastien; Racine, Caroline; Garde, Aurore; Delanne, Julian; Tran‐Mau‐Them, Frédé... Journal: Annals of human genetics Issue: Volume 86:Number 4(2022) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. Issue 11 (17th February 2011) Authors: El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-... Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗