Publications by authors named "B Van Der Zwaag"
Pathogenic variants in are associated with the ciliopathy Joubert syndrome (JS). We report individuals with variants affected by primary and motile cilia defects leading to JS and chronic destructive airway disease. DNA variants were detected in three families by sequencing.
View Article and Find Full Text PDFIntroduction: disorder is a recently introduced term for phenotypes associated with germline Wilms Tumor 1 () variants, including glomerulopathy, urogenital anomalies, and Wilms tumor. Previous studies showed a bias toward missense variants in the DNA-binding/Zinc-finger domain of (exon 8 and 9) and patients with early-onset glomerulopathy. Thorough genotype-phenotype correlations including follow-up data on late-onset glomerulopathy risk are lacking.
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- Chronic kidney disease (CKD) is unexplained in 20% of patients, and this study investigates the use of massively parallel sequencing (MPS) as a diagnostic tool for these cases.
- The study found that in 340 participants, a genetic diagnosis was identified in 17% of cases, leading to clinical consequences in 73% of those diagnosed.
- Barriers to implementation of genetic testing included genetic illiteracy among nephrologists, difficulties in test selection, and lack of time, highlighting the need for better education in genetics.
Introduction: Genetic testing can reveal monogenic causes of kidney diseases, offering diagnostic, therapeutic, and prognostic benefits. Although single nucleotide variants (SNVs) and copy number variants (CNVs) can result in kidney disease, CNV analysis is not always included in genetic testing.
Methods: We investigated the diagnostic value of CNV analysis in 2432 patients with kidney disease genetically tested at the University Medical Centre Utrecht between 2014 and May 2022.
Background: In a global effort to design better hospital buildings for people and organizations, some design principles are still surrounded by great mystery. The aim of this online study was to compare anxiety in an existing single-bed inpatient hospital room with three redesigns of this room in accordance with the principles of Golden Ratio, Feng Shui, and Evidence-Based Design.
Methods: In this online multi-arm parallel-group randomized trial participants were randomly assigned (1:1:1:1) to one of four conditions, namely Golden Ratio condition, Feng Shui condition, Evidence-Based Design condition, or the control condition.