Janine Reurink

Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction

Kim Rodenburg, Leony Fenwick, Ronald Pennings, Lonneke Haer-Wigman et autres

Abstract Despite substantial advances in diagnostic testing, 10-15% of Usher syndrome patients remain without a genetic diagnosis, having significant implications for genetic counseling and potential future therapeutic interventions. In this study, genome sequencing data from probands clinically presenting with Usher syndrome were …

nl, il (code pays fourni par la source)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn et autres

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated …

nl, gb, se, be, it, il, fr, es, ch, ca, us, jp (code pays fourni par la source)

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery et autres

A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-associated disease and no or mono-allelic USH2A variants using whole genome sequencing …

nl, de, ie, fr, il, ch, cz, ca, it, dk, be, id (code pays fourni par la source)

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben‐Yosef et autres

PURPOSE: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is higher than anticipated. We revisited short-read …

nl, il, ie, ch, hu, fr, de, ru (code pays fourni par la source)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn et autres

Abstract Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated …

nl, gb, se, be, it, il, fr, es, ch, ca, us, jp (code pays fourni par la source)

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos et autres

Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing …

nl, us, pl (code pays fourni par la source)

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

Neringa Jurkutė, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li et autres

Abstract 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 sequencing for molecular diagnosis of their condition. Following negative IRD gene panel …

gb, ch, de, nl, gr (code pays fourni par la source)

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

Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel et autres

Abstract 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 asymptomatic individuals homozygous for this variant. We …

nl, id (code pays fourni par la source)

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

Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li et autres

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 heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been …

nl, de, ie (code pays fourni par la source)

Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

Erik de Vrieze, Suzanne E. de Bruijn, Janine Reurink, Sanne Broekman et autres

CRISPR-Cas9-based genome-editing is a highly efficient and cost-effective method to generate zebrafish loss-of-function alleles. However, introducing patient-specific variants into the zebrafish genome with CRISPR-Cas9 remains challenging. Targeting options can be limited by the predetermined genetic context, and the efficiency of the homology-directed …

nl, us (code pays fourni par la source)

Molecular inversion probe sequencing to identify USH2A variants underlying Usher syndrome and non-syndromic retinitis pigmentosa

Janine Reurink, Adrian Dockery, Gwyneth Jane Farrar, Monika Ołdak et autres

nl, ie, pl (code pays fourni par la source)

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

Janine Reurink, Adrian Dockery, Dominika Oziębło, Gwyneth Jane Farrar et autres

A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility for optimal genetic counseling and …

nl, ie, pl (code pays fourni par la source)