1. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. Issue 6 (19th March 2019) Authors: Conrad, Solène; Demurger, Florence; Moradkhani, Kamran; Pichon, Olivier; Le Caignec, Cédric; Pascal, Cécile; Thomas, Caroline; Bayart, Sophie; Perlat, Antoinette; Dubourg, Christèle; Jaillard, Sylvie; Nizon, Mathilde Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital Heart Defects in Patients with Deletions Upstream of SOX9. Issue 12 (18th October 2013) Authors: Sanchez‐Castro, Marta; Gordon, Christopher T.; Petit, Florence; Nord, Alex S.; Callier, Patrick; Andrieux, Joris; Guérin, Patrice; Pichon, Olivier; David, Albert; Abadie, Véronique; Bonnet, Damien; Visel, Axel; Pennacchio, Len A.; Amiel, Jeanne; Lyonnet, Stanislas; Le Caignec, Cédric Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects. Issue 1 (28th November 2014) Authors: Sanchez‐Castro, Marta; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Gournay, Véronique; David, Albert; Caignec, Cédric Le Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases. Issue 12 (22nd September 2022) Authors: Testard, Quentin; Vanhoye, Xavier; Yauy, Kevin; Naud, Marie-Emmanuelle; Vieville, Gaelle; Rousseau, Francis; Dauriat, Benjamin; Marquet, Valentine; Bourthoumieu, Sylvie; Geneviève, David; Gatinois, Vincent; Wells, Constance; Willems, Marjolaine; Coubes, Christine; Pinson, Lucile; Dard, Rodolphe; ... Journal: Journal of medical genetics Issue: Volume 59:Issue 12(2022) Page Start: 1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?. Issue 8 (3rd July 2013) Authors: Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Caignec, Cédric Le; Crow, Yanick J; David, Albert Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial autosomal dominant severe ankyloglossia with tooth abnormalities. Issue 7 (28th April 2018) Authors: Lenormand, Anaëlle; Khonsari, Roman; Corre, Pierre; Perrin, Jean Philippe; Boscher, Cécile; Nizon, Mathilde; Pichon, Olivier; David, Albert; Le Caignec, Cedric; Bertin, Helios; Isidor, Bertrand Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genome-wide identification and biochemical characterization of the UGT88F subfamily in Malus x domestica Borkh. (January 2019) Authors: Elejalde-Palmett, Carolina; Billet, Kévin; Lanoue, Arnaud; De Craene, Johan-Owen; Glévarec, Gaëlle; Pichon, Olivier; Clastre, Marc; Courdavault, Vincent; St-Pierre, Benoit; Giglioli-Guivarc'h, Nathalie; Dugé de Bernonville, Thomas; Besseau, Sébastien Journal: Phytochemistry Issue: Volume 157(2019) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Issue 11 (12th July 2019) Authors: Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert‐Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie‐Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, Fra... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mandibular dysostosis without microphthalmia caused by OTX2 deletion. Issue 9 (5th July 2016) Authors: Latypova, Xénia; Bordereau, Sylvain; Bleriot, Alice; Pichon, Olivier; Poulain, Damien; Briand, Annaïg; Le Caignec, Cédric; Isidor, Bertrand Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Patients with isolated oligo/hypodontia caused by RUNX2 duplication. (21st April 2015) Authors: Molin, Arnaud; Lopez‐Cazaux, Serena; Pichon, Olivier; Vincent, Marie; Isidor, Bertrand; Le Caignec, Cédric Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗