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List of works by Mathieu Quinodoz

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing

scientific article published in 2023

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

scientific article published on 10 August 2022

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

scientific article published on 3 March 2022

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

scientific article published on 20 October 2022

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

scientific article published in November 2022

Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq ⬇️

scientific article published on 30 May 2022

Herpes simplex encephalitis in adult patients with MASP-2 deficiency

scientific article published on 23 December 2019

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening

scientific article published in May 2023

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

scientific article published on 9 September 2022

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

scientific article published on 6 January 2022

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV

scientific article published on 7 November 2022

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

scientific article published on 8 November 2023

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

scholarly article

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