1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome1. Issue 1 (13th December 2012) Authors: Debost‐Legrand, Anne; Eymard‐Pierre, Eleonore; Pebrel‐Richard, Céline; Gouas, Laetitia; Goumy, Carole; Giollant, Michel; Ayed, Wiem; Tchirkov, Andreï; Francannet, Christine; Vago, Philippe Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. Issue 9 (27th June 2016) Authors: Goumy, Carole; Gay‐Bellile, Mathilde; Salaun, Gaelle; Kemeny, Stephan; Eymard‐Pierre, Eleonore; Biard, Marie; Pebrel‐Richard, Celine; Vanlieferinghen, Philippe; Francannet, Christine; Tchirkov, Andrei; Laurichesse, Helene; Rouzade, Charles; Gouas, Laetitia; Vago, Philippe Journal: Birth defects research Issue: Volume 106:Issue 9(2016) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013) Authors: Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S... Journal: Journal of medical genetics Issue: Volume 50:Issue 2(2013) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019) Authors: Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. (25th November 2014) Authors: Goumy, Carole; Laffargue, Fanny; Eymard‐Pierre, Eléonore; Kemeny, Stéphen; Gay‐Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel‐Richard, Céline; Vago, Philippe Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth‐defect registries. Issue 15 (19th July 2017) Authors: Laurichesse Delmas, Hélène; Kohler, Monique; Doray, Bérénice; Lémery, Didier; Francannet, Christine; Quistrebert, Jocelyn; Marie, Cécile; Perthus, Isabelle Journal: Birth defects research Issue: Volume 109:Issue 15(2017) Page Start: 1204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗