Publications by authors named "L A T M Vissers"
Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare diseases.
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- * By employing three CNV calling algorithms to enhance detection, we successfully provided molecular diagnoses to 51 families, with ClinCNV showing the highest effectiveness among the algorithms used.
- * Additionally, we found partially explanatory pathogenic CNVs in 34 other individuals, highlighting the importance and benefits of revisiting past exome sequencing data in search of CNVs.
Article Synopsis
- Clinical exome sequencing (ES) aids in diagnosing rare genetic disorders by analyzing protein-coding sequences, but 40-60% of patients still lack a conclusive diagnosis, with some revealing monoallelic variants in recessive disorders.* -
- The study explored short-read genome sequencing (GS) on 174 individuals with identified monoallelic variants, successfully uncovering additional pathogenic variants in five patients and rare non-coding variants in 24 others, with three variants confirmed to affect splicing.* -
- Overall, GS increased the diagnostic yield, identifying a likely second pathogenic variant in 4.6% of the cohort and providing a possible diagnosis for 12.1%, suggesting it could be a valuable first-tier
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.
Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.
Article Synopsis
- Pediatric patients with unexplained bone marrow failure are often diagnosed with aplastic anemia, and since this condition may be auto-immune, immune suppressive therapy is considered, though most severe cases are treated with hematopoietic stem cell transplantation as it offers a cure.
- A study analyzed NK- and B-cells from bone marrow and blood samples of seven pediatric AA patients compared to healthy donors, revealing specific changes in their NK-cell populations and a reduction in B-cell counts.
- The findings suggest that a subset of AA patients with reduced NK-cell function may exhibit auto-immunity, which could contribute to their condition, while transitional B-cells, believed to be regulatory in AA, were also found in lower numbers.