Publications by authors named "Isabelle Meunier"

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Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P Hamel, Isabelle Meunier

Mol Ther Methods Clin Dev· December 2025

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Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.
Daria Mamaeva, Nejla Erkilic, Christel Vaché, Jérôme Prados, Laurent Guillou, Isabelle Meunier

Stem Cell Res· October 2025

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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Kamal Khan, Erika Tavares, Katherine Bishara, Aysegul Ozanturk, Leila Qebibo, Isabelle Meunier

Sci Adv· October 2025

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Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Joan Bitan, Anaïs F Poncet, Claire Lecigne, Aurore Devos, Isabelle Meunier

Invest Ophthalmol Vis Sci· September 2025

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The phenotypic spectrum of gene variants.
Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, Anne-Marie Guerrot, Isabelle Audo, Isabelle Meunier

Ophthalmic Genet· August 2025

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Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT.
Isabelle Audo, Pierre-Olivier Barale, Céline Devisme, Saddek Mohand-Said, Isabelle Meunier

Eye (Lond)· June 2025

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Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.
Lorenzo Bianco, Julien Navarro, Christelle Michiels, Riccardo Sangermano, Christel Condroyer, Isabelle Meunier

Genet Med· June 2025

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[Monogenic autoinflammatory uveitis].
Hippolyte Lequain, Laurent Kodjikian, Isabelle Meunier, Yvan Jamilloux, Pascal Sève

Rev Med Interne· June 2025

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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.
Lude Moekotte, Joke H de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Isabelle Meunier

Invest Ophthalmol Vis Sci· February 2025

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Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial.
Renuka P Dias, Kristian Brock, Kun Hu, Rajat Gupta, Una Martin, Isabelle Meunier

BMJ Open· February 2025

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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.
Christel Vaché, Valérie Faugère, David Baux, Luke Mansard, Charles Van Goethem, Isabelle Meunier

Eur J Hum Genet· January 2025

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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Austin D Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Isabelle Meunier

Br J Ophthalmol· January 2025

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Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration.
Alessio Antropoli, Lorenzo Bianco, Francesco Romano, Andrea Trinco, Alessandro Arrigo, Isabelle Meunier

Prog Retin Eye Res· January 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Isabelle Meunier

medRxiv· January 2025

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Interim estimates of vaccine effectiveness against influenza A(H1N1)pdm09 and A(H3N2) during a delayed influenza season, Canada, 2024/25.
Lea Separovic, Yuping Zhan, Samantha E Kaweski, Suzana Sabaiduc, Sara Carazo, Isabelle Meunier

Euro Surveill· January 2025

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Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy.
Krishna Damodar, Gregor Dubois, Laurent Guillou, Daria Mamaeva, Marie Pequignot, Isabelle Meunier

Mol Ther· December 2024

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Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.
Andrea Bighinati, Sara D'Alessandro, Angelo Felline, Christina Zeitz, Béatrice Bocquet, Isabelle Meunier

Int J Biol Macromol· November 2024

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Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, Cécile Courdier, Isabelle Meunier

Doc Ophthalmol· August 2024

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XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with -Associated X-Linked Retinitis Pigmentosa.
Robert E MacLaren, Jacque L Duncan, M Dominik Fischer, Byron L Lam, Isabelle Meunier

Ophthalmol Sci· August 2024

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A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
Robert E Maclaren, Byron L Lam, M Dominik Fischer, Frank G Holz, Mark E Pennesi, Isabelle Anne Meunier

Am J Ophthalmol· July 2024

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Isabelle Meunier

Brain· June 2024

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Novel and Recurrent Copy Number Variants in -Associated Retinopathy.
Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier

Int J Mol Sci· May 2024

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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Isabelle Meunier

JCI Insight· November 2023

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Deep learning model for automatic differentiation of EMAP from AMD in macular atrophy.
Maxime Chouraqui, Emanuele Crincoli, Alexandra Miere, Isabelle Anne Meunier, Eric H Souied

Sci Rep· November 2023

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variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Isabelle Meunier

HGG Adv· October 2023

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