1. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Issue 7 (22nd January 2018) Authors: Chartier, Suzanne; Alby, Caroline; Boutaud, Lucile; Thomas, Sophie; Elkhartoufi, Nadia; Martinovic, Jelena; Kaplan, Josseline; Benachi, Alexandra; Lacombe, Didier; Sonigo, Pascale; Drunat, Séverine; Vekemans, Michel; Agenor, Joël; Encha Razavi, Férechté; Attie‐Bitach, Tania Journal: Birth defects research Issue: Volume 110:Issue 7(2018) Page Start: 598 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. (16th May 2018) Authors: Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier Journal: Human molecular genetics Issue: Volume 27:Number 15(2018:Aug. 01) Page Start: 2689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS. (20th October 2017) Authors: Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Verloes, Alain; Perdomo‐Trujillo, Yaumara; Hamel, Christian; Elcioglu, Nursel H.; Leroy, Bart; Kaplan, Josseline; Jouk, Pierre‐Simon; Lacombe, Didier; Fergelot, Patricia; Morice‐Picard, Fanny; Arveiler, Benoit Journal: Pigment cell & melanoma research Issue: Volume 30:Number 6(2017) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. Issue 5 (28th December 2016) Authors: Gerber, Sylvie; Ding, Martina G; Gérard, Xavier; Zwicker, Klaus; Zanlonghi, Xavier; Rio, Marlène; Serre, Valérie; Hanein, Sylvain; Munnich, Arnold; Rotig, Agnès; Bianchi, Lucas; Amati-Bonneau, Patrizia; Elpeleg, Orly; Kaplan, Josseline; Brandt, Ulrich; Rozet, Jean-Michel Journal: Journal of medical genetics Issue: Volume 54:Issue 5(2017) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016) Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome. Issue 8 (August 2020) Authors: Ortoli, Manon; Zambrowski, Olivia; Miere, Alexandra; Gerber, Sylvie; Kaplan, Josseline; Souied, Eric Other Names: Grewal Dilraj section editor.; Brodie Frank L. section editor.; Feng Henry section editor. 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) ↗
7. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene. (23rd October 2013) Authors: Morice‐Picard, Fanny; Lasseaux, Eulalie; Cailley, Dorothée; Gros, Audrey; Toutain, Jérome; Plaisant, Claudio; Simon, Delphine; François, Stéphane; Gilbert‐Dussardier, Brigitte; Kaplan, Josseline; Rooryck, Caroline; Lacombe, Didier; Arveiler, Benoit Journal: Pigment cell & melanoma research Issue: Volume 27:Number 1(2014:Jan.) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015) Authors: Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La... Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Issue 47 (5th November 2015) Authors: Hamdan, Fadi F.; Perrault, Isabelle; Rio, Marlène; Capo‐Chichi, José‐Mario; Boddaert, Nathalie; Décarie, Jean‐Claude; Maranda, Bruno; Nabbout, Rima; Sylvain, Michel; Lortie, Anne; Roux, Philippe P.; Rossignol, Elsa; Gérard, Xavier; Barcia, Giulia; Berquin, Patrick; Munnich, Arnold; Rouleau, Guy A... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗