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  1. Article

    Open Access

    Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

    Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heteroge...

    Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li… in Human Genetics (2022)

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  2. Article

    Open Access

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

    The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome seque...

    Neringa Jurkute, Francesca Cancellieri, Lisa Pohl… in npj Genomic Medicine (2022)

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  3. Article

    Open Access

    Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

    The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two a...

    Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel… in npj Genomic Medicine (2022)

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