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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

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

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

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:

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 2018

Prevalence of mutations in PDE6B gene in autosomal recessive retinitis pigmentosa in the aim of gene therapy

Jean-Yves Deslandes; Mathilde Giraud; Bertrand Isidor; Patricia Talarmain; Ingrid Maury; Severine Marconi; Guylene Le Meur; Michel Weber; Isabelle Meunier; Christian Hamel; Stéphane Bezieau

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):38. doi:

ARVO Annual Meeting Abstract July 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322. doi:

ARVO Annual Meeting Abstract July 2018

Clinical data and natural history of retinitis punctata albescent with RLBP1 mutations for the purpose of gene therapy.

Isabelle Meunier; Hicham El Alami; Beatrice Bocquet

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2334. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Gael Manes; Willy Joly; Thomas Guignard; Béatrice Bocquet; Patrick Carroll; David Geneviève; Bernard Puech; Christian P Hamel; Isabelle Meunier

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4510. doi:

ARVO Annual Meeting Abstract June 2015

Defective mer-tyrosine kinase (mer-TK) function is associated with anti-arrestin and anti- interphotoreceptor retinoid-binding protein (IRBP) autoantibodies (AAbs) in Mer, Axl, Tyro3 -/- (TAM) mice and in autosomal recessive retinitis pigmentosa (arRP) patients with a null MERTK mutation

Rebecca Epstein; David New; TJ Hollingsworth; Isabelle Meunier; Nataliya Lenchik; Qingxian Lu; Ivan Gerling; Christian P Hamel; Marko Radic; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):169. doi:

ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Gael Manes; Tremeur Guillaumie; Isabelle S Audo; Christina Zeitz; Aurore Devos; Béatrice Bocquet; Corinne Baudoin; Isabelle Meunier; Claire-Marie Dhaenens; Christian P Hamel; adRP research team (Paris XV/XX)

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1264. doi:

ARVO Annual Meeting Abstract April 2014

Molecular characterization of SNRNP200 mutations causing autosomal dominant retinitis pigmentosa with incomplete penetrance and phenotypic variability

Carlo Rivolta; Paola Benaglio; Tremeur Guillaumie; Gael Manes; Shyana Harper; Eliot L Berson; Isabelle Meunier; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3264. doi:

ARVO Annual Meeting Abstract June 2013

Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients

agathe roubertie; Nicolas Leboucq; Hervé Brunel; Emmanuelle Lebars; Michel Mondain; Patrizia Amati Bonneau; Max Villain; Isabelle Meunier; Guy Lenaers; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1205. doi:

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659. doi:

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

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

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

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

CPH1, a new gene for Dominant Optic Atrophy

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

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

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

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

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

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

Prevalence of mutations in PDE6B gene in autosomal recessive retinitis pigmentosa in the aim of gene therapy

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Clinical data and natural history of retinitis punctata albescent with RLBP1 mutations for the purpose of gene therapy.

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Defective mer-tyrosine kinase (mer-TK) function is associated with anti-arrestin and anti- interphotoreceptor retinoid-binding protein (IRBP) autoantibodies (AAbs) in Mer, Axl, Tyro3 -/- (TAM) mice and in autosomal recessive retinitis pigmentosa (arRP) patients with a null MERTK mutation

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Molecular characterization of SNRNP200 mutations causing autosomal dominant retinitis pigmentosa with incomplete penetrance and phenotypic variability

Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

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