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. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures. Issue 12 (24th September 2014) Authors: Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca‐Boidron, Anne‐Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot‐Lorton, Marie‐... Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations. Issue 11 (7th September 2019) Authors: Gatinois, Vincent; Bigi, Nicole; Mousty, Eve; Chiesa, Jean; Musizzano, Yuri; Schneider, Anouck; Lefort, Geneviève; Pinson, Lucile; Gaillard, Jean‐Baptiste; Ragon, Clémence; Perez, Marie‐Josée; Tournaire, Magali; Blanchet, Patricia; Corsini, Carole; Haquet, Emmanuelle; Callier, Patrick; Geneviève,... Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. Issue 12 (25th October 2012) Authors: Courcet, Jean-Benoît; Faivre, Laurence; Malzac, Perrine; Masurel-Paulet, Alice; Lopez, Estelle; Callier, Patrick; Lambert, Laetitia; Lemesle, Martine; Thevenon, Julien; Gigot, Nadège; Duplomb, Laurence; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Philippe, Christo... Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 731 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗