Kim Rodenburg
A5005513403- Retinal Development and Disorders
- Genomics and Rare Diseases
- interferon and immune responses
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Congenital Ear and Nasal Anomalies
- Reconstructive Facial Surgery Techniques
- Cytomegalovirus and herpesvirus research
- Retinal Diseases and Treatments
- Ocular Disorders and Treatments
- Advanced biosensing and bioanalysis techniques
Radboud University Nijmegen
2022-2024
Radboud University Medical Center
2022-2024
University of Wisconsin–Madison
2023
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon availability genome sequencing, it is expected that involvement IRDs higher than anticipated. We revisited short-read sequencing data to enhance gene-disruptive SVs.Optical mapping was performed improve SV detection sequencing-negative cases. In addition, reanalysis interpretation and re-establish prioritization criteria.In a monoallelic USH2A...
Inherited retinal diseases (IRDs) are a group of rare monogenic with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The diagnostic rate for IRDs is around 60%, mainly thanks to the routine application next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome (WGS) has been reported improve this by revealing elusive variants, structural (SVs) and deep intronic (DIVs). We performed WGS on 33...
Inherited retinal dystrophies (IRDs) are characterized by photoreceptor dysfunction or degeneration. Clinical and phenotypic overlap between IRDs makes the genetic diagnosis very challenging comprehensive genomic approaches for accurate frequently required. While there previous studies on in Pakistan, causative genes variants still unknown a significant portion of patients. Therefore, is need to expand knowledge spectrum Pakistan. Here, we recruited 52 affected 53 normal individuals from 15...
Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite advancements in genome screening technologies, more than half of A/M patients do not receive a molecular diagnosis. We included seven consanguineous families affected with from Pakistani cohort an unknown basis. Single gene testing FOXE3 was performed, followed by sequencing for unsolved probands order to establish genetic diagnosis these families. All were provided The identified...
Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease 1 (STGD1), fundus flavimaculatus, cone-rod dystrophy (CRD), pan-retinal CRD. Approximately 25% the reported ABCA4 affect RNA splicing. In most cases, it necessary perform a functional assay determine effect variants. Methods: Whole genome sequencing (WGS) was performed...