1. A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family. Issue 6 (November 2019) Authors: Hadrami, Mouna; Bonnet, Crystel; Veten, Fatimetou; Zeitz, Christina; Condroyer, Christel; Wang, Panfeng; Biya, Mohamed; Sidi Ahmed, Med Ahmed; Zhang, Qingjiong; Cheikh, Sidi; Audo, Isabelle; Petit, Christine; Houmeida, Ahmed Journal: European journal of ophthalmology Issue: Volume 29:Issue 6(2019) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. Issue 5 (May 2019) Authors: Boulanger-Scemama, Elise; Sahel, Jose-Alain; Mohand-Said, Saddek; Antonio, Aline; Condroyer, Christel; Zeitz, Christina; Audo, Isabelle Journal: Retina Issue: Volume 39:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CHM mutation spectrum and disease: An update at the time of human therapeutic trials. Issue 4 (19th February 2021) Authors: Zeitz, Christina; Nassisi, Marco; Laurent‐Coriat, Caroline; Andrieu, Camille; Boyard, Fiona; Condroyer, Christel; Démontant, Vanessa; Antonio, Aline; Lancelot, Marie‐Elise; Frederiksen, Helen; Kloeckener‐Gruissem, Barbara; El‐Shamieh, Said; Zanlonghi, Xavier; Meunier, Isabelle; Roux, Anne‐Françoi... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CNGB1‐related rod‐cone dystrophy: A mutation review and update. Issue 6 (16th May 2021) Authors: Nassisi, Marco; Smirnov, Vasily M.; Solis Hernandez, Cyntia; Mohand‐Saïd, Saddek; Condroyer, Christel; Antonio, Aline; Kühlewein, Laura; Kempf, Melanie; Kohl, Susanne; Wissinger, Bernd; Nasser, Fadi; Ragi, Sara D.; Wang, Nan‐Kai; Sparrow, Janet R.; Greenstein, Vivienne C.; Michalakis, Stylianos; ... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. (4th March 2019) Authors: Tourville, Aurore; Michiels, Christelle; Condroyer, Christel; Meunier, Audrey; Cordonnier, Monique; Sahel, José-Alain; Audo, Isabelle; Abramowicz, Marc; Zeitz, Christina Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. (June 2015) Authors: Lesage, Suzanne; Bras, Jose; Cormier-Dequaire, Florence; Condroyer, Christel; Nicolas, Aude; Darwent, Lee; Guerreiro, Rita; Majounie, Elisa; Federoff, Monica; Heutink, Peter; Wood, Nicholas W.; Gasser, Thomas; Hardy, John; Tison, François; Singleton, Andrew; Brice, Alexis Journal: Neurology Issue: Volume 1:Number 1(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Issue 8 (August 2020) Authors: Khateb, Samer; Mohand-Saïd, Saddek; Nassisi, Marco; Bonnet, Crystel; Roux, Anne-Françoise; Andrieu, Camille; Antonio, Aline; Condroyer, Christel; Zeitz, Christina; Devisme, Céline; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, José-Alain; Audo, Isabelle Journal: Retina Issue: Volume 40:Issue 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy. (6th January 2015) Authors: El Shamieh, Said; Boulanger-Scemama, Elise; Lancelot, Marie-Elise; Antonio, Aline; Démontant, Vanessa; Condroyer, Christel; Letexier, Mélanie; Saraiva, Jean-Paul; Mohand-Saïd, Saddek; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina Other Names: Chen Calvin Yu-Chian Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy. Issue 2 (9th November 2020) Authors: Solaguren‐Beascoa, Maria; Bujakowska, Kinga M.; Méjécase, Cécile; Emmenegger, Lisa; Orhan, Elise; Neuillé, Marion; Mohand‐Saïd, Saddek; Condroyer, Christel; Lancelot, Marie‐Elise; Michiels, Christelle; Demontant, Vanessa; Antonio, Aline; Letexier, Mélanie; Saraiva, Jean‐Paul; Lonjou, Christine; C... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders. Issue 6 (28th March 2019) Authors: Zeitz, Christina; Michiels, Christelle; Neuillé, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; N. Preising, Markus; Blanchar... Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗