1. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015) Authors: Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. Issue 4 (22nd January 2018) Authors: Doyard, Mathilde; Bacrot, Séverine; Huber, Céline; Di Rocco, Maja; Goldenberg, Alice; Aglan, Mona S; Brunelle, Perrine; Temtamy, Samia; Michot, Caroline; Otaify, Ghada A; Haudry, Coralie; Castanet, Mireille; Leroux, Julien; Bonnefont, Jean-Paul; Munnich, Arnold; Baujat, Geneviève; Lapunzina, Pabl... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta. (14th April 2020) Authors: Dubail, Johanne; Brunelle, Perrine; Baujat, Geneviève; Huber, Céline; Doyard, Mathilde; Michot, Caroline; Chavassieux, Pascale; Khairouni, Abdeslam; Topouchian, Vicken; Monnot, Sophie; Koumakis, Eugénie; Cormier‐Daire, Valérie Journal: Journal of bone and mineral research Issue: Volume 35:Number 8(2020) Page Start: 1470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations. Issue 1 (23rd September 2019) Authors: Jourdain, Anne‐Sophie; Petit, Florence; Odou, Marie‐Françoise; Balduyck, Malika; Brunelle, Perrine; Dufour, William; Boussion, Simon; Brischoux‐Boucher, Elise; Colson, Cindy; Dieux, Anne; Gérard, Marion; Ghoumid, Jamal; Giuliano, Fabienne; Goldenberg, Alice; Khau Van Kien, Philippe; Lehalle, Daph... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020) Authors: Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. Issue 7 (3rd May 2019) Authors: Brunelle, Perrine; Jourdain, Anne‐Sophie; Escande, Fabienne; Martinovic, Jelena; Dupont, Juliette; Busa, Tiffany; Moncla, Anne; Frénois, Frédéric; Stichelbout, Morgane; Manouvrier‐Hanu, Sylvie; Petit, Florence Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗