Publications by authors named "Mathieu Quinodoz"

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A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Saadia Z Farooqui, Mathieu Quinodoz, Tien-En Tan, Rachael W C Tang, Choi Mun Chan

Ophthalmic Genet· December 2025

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Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease.
Nathan L Mata, Stephanie Weng, Michel Michaelides, Peter Charbel Issa, Mathieu Quinodoz

Ophthalmic Res· December 2025

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Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D Allen, Ehsan Ullah, Mathieu Quinodoz

JAMA Ophthalmol· December 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mathieu Quinodoz

Am J Hum Genet· October 2025

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Early-onset macular drusen, a monogenic form of age-related macular degeneration.
Lisa M George, Mathur Ranjana, Mathieu Quinodoz, Rachael W C Tang, Weng Khong Lim

Am J Ophthalmol Case Rep· September 2025

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Novel founder variant in the S-antigen visual arrestin gene is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.
Mathieu Quinodoz, Yixin Lai, Rachael Wei Chao Tang, Hwee Goon Tay, Tien-En Tan

J Med Genet· August 2025

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Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Marianthi Karali, Gema García-García, Karolina Kaminska, Alaa AlTalbishi, Francesca Cancellieri, Mathieu Quinodoz

Eur J Hum Genet· June 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska

bioRxiv· June 2025

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, Karolina Kaminska, Katarina Jovanovic, Mathieu Quinodoz

Hum Mol Genet· April 2025

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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens

Am J Hum Genet· April 2025

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A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri

NPJ Genom Med· April 2025

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Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB.
Lidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida, Mathieu Quinodoz

Sci Rep· April 2025

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High-efficiency base editing in the retina in primates and human tissues.
Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Mathieu Quinodoz

Nat Med· February 2025

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Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.
Kristina Pfau, Georg Ansari, Stephan Michels, Chantal Dysli, Sandra Liakopoulos, Mathieu Quinodoz

Invest Ophthalmol Vis Sci· February 2025

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ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping.
Mathieu Quinodoz, Ana Belén Iglesias-Romero, Francesca Cancellieri, Karolina Kaminska, Hendrik P N Scholl

Adv Exp Med Biol· February 2025

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Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors.
Oleksandr Zabiegalov, Adeline Berger, Dhryata Kamdar, Kabirou Adamou, Chuanxi Tian, Mathieu Quinodoz

Cells· February 2025

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De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.
Mathieu Quinodoz, Sonja Rutz, Virginie Peter, Livia Garavelli, A Micheil Innes

EMBO J· 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

medRxiv· January 2025

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E Roger, Mathieu Quinodoz

Nat Commun· November 2024

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Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin

Am J Hum Genet· October 2024

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Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Samantha Malka, Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Mathieu Quinodoz

Am J Hum Genet· September 2024

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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz

Genet Med· June 2024

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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S Krebs, Maxime Jan

Nat Commun· May 2024

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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter

Am J Hum Genet· April 2024

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GNB1-Related Rod-Cone Dystrophy: A Case Report.
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik

Case Rep Ophthalmol· March 2024

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