Publications by authors named "I de Wijs"
Article Synopsis
- A study was conducted on 150 pediatric neurology patients who underwent exome sequencing, finding that 103 remained undiagnosed, with efforts made to improve the diagnosis rate five years later through re-evaluation strategies.
- The study revealed that ad hoc re-evaluation led to 18 new diagnoses, while systematic re-evaluation provided an additional 14, raising the overall diagnostic yield from 31% to 53% in this patient cohort.
- Key findings highlighted that many of the successful re-evaluations occurred in patients who had not recontacted their referring clinicians, suggesting a need for more proactive follow-up in clinical care.
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes.
View Article and Find Full Text PDFPurpose: To determine the efficacy of multiple versions of a commercially available arrayed primer extension (APEX) microarray chip for autosomal recessive retinitis pigmentosa (arRP).
Methods: We included 250 probands suspected of arRP who were genetically analyzed with the APEX microarray between January 2008 and November 2013. The mode of inheritance had to be autosomal recessive according to the pedigree (including isolated cases).
Variants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing" variants in these cases, we performed multiplex ligation-dependent probe amplification-based deletion scanning of ABCA4.
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