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ARVO Annual Meeting Abstract June 2020

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume OLIVIER; Beatrice BOCQUET; Carlo Rivolta; Ervann Andreo; Agnes Muller; Christian Hamel; Alice MASUREL; Catherine P Creuzot Garcher; Laurence FAIVRE; Isabelle Anne Meunier; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2401. doi:

ARVO Annual Meeting Abstract July 2019

Phenotype variations of retinal dystrophies caused by mutations in the PDE6β gene (MIM#613801)

Le Meur Guylene; Pierre Lebranchu; Mathilde Giraud; Fanny Billaud; Beatrice BOCQUET; Marie-Noelle Delyfer; Didier Lacombe; Stéphane Bézieau; Isabelle Anne Meunier; Michel Weber

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4496. doi:

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811. doi:

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813. doi:

ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930. doi:

ARVO Annual Meeting Abstract July 2019

CRISPR/Cas9-mediated correction of the most recurrent USH2A mutation in patient iPSC

Carla Sanjurjo Soriano; Nejla Erkilic; Daria Mamaeva; Michalitsa Diakatou; Isabelle Anne Meunier; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4943. doi:

ARVO Annual Meeting Abstract July 2019

Natural History of the Progression of RPGR-Associated X-Linked Retinitis Pigmentosa (XOLARIS) Study: Cross-Sectional Analysis of Baseline Characteristics

Moreno Menghini; David G Birch; Camiel Boon; Jacque L Duncan; M Dominik Fischer; Frank G Holz; Carel C B Hoyng; Kamron N Khan; Isabelle Anne Meunier; Mark E Pennesi; Eeva-Marja Kaarina Sankila; Robert E MacLaren

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5168. doi:

ARVO Annual Meeting Abstract July 2019

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Beatrice BOCQUET; Claire-Marie Dhaenens; Isabelle Perrault; Jean-Michel Rozet; Josseline Kaplan; Anne Francoise Roux; Dalil Hamroun; Gabriel Gardes; Gael Manes; Elfride De Baere; Bart P Leroy; Vasiliki Kalatzis; Isabelle Anne Meunier

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2948. doi:

ARVO Annual Meeting Abstract July 2019

Impg1 and Impg2 knock down analysis in the development of medaka fish photoreceptors

Guillaume OLIVIER; Danila FALANGA; Francesco SALIERNO; Daniela INTARTAGLIA; Chantal CAZEVIEILLE; Elena POLISHCHU; Sandro Banfi; Agnès MULLER; Isabelle Anne Meunier; Ivan Conte; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3114. doi:

ARVO Annual Meeting Abstract July 2019

Presence of functional ion channels in human iPSC-derived retinal pigment epithelium

Vasiliki Kalatzis; Daria Mamaeva; Mattia Di Francesco; Zhour Jazouli; Nejla Erkilic; Simona Torriano; Marie O Pequignot; Cecile Hilaire; Isabelle Anne Meunier; Hassan Boukhaddaoui

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3314. doi:

ARVO Annual Meeting Abstract July 2019

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases.

Isabelle Anne Meunier; Beatrice BOCQUET; Catherine Blanchet; Sabine defoort; Agathe Roubertie; Marjorlaine Willems; david genevieve; Patricia Blanchet; Vasiliki Kalatzis; camille lemattre

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3970. doi:

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