Publications by authors named "M M Nordling"
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.
View Article and Find Full Text PDFBrowning of surface waters due to increased terrestrial loading of dissolved organic matter (DOM) is observed across the Northern Hemisphere. The effects influence several ecosystem services from freshwater productivity to water purification. Brownification is often explained by changes in large-scale anthropogenic pressures and ecosystem functioning (acidification, climate change, and land cover changes).
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- - Pathogenic variants in the APC gene are responsible for familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome, prompting the development of specific classification criteria to aid in variant interpretation.
- - The study involved applying these APC-specific criteria to assess over 10,000 unique APC variants from databases like ClinVar and LOVD, leading to a significant reclassification of variants of uncertain significance (VUSs), with many being reassessed as (likely) benign or (likely) pathogenic.
- - The results showed that using these tailored criteria effectively reduced VUSs by 37%, highlighted the potential for systematic variant classification in large datasets, and established a model that could benefit future genetic variant interpretation efforts in
Article Synopsis
- The ETLAS-2 trial investigates the effectiveness of tadalafil, a medication that enhances blood flow in the brain, on patients with cerebral small vessel disease, a leading cause of strokes and vascular dementia.* -
- It is a phase 2 double-blind study involving 100 patients, focusing on changes in brain health over three months of treatment and utilizing MRI and cognitive testing to assess outcomes.* -
- Currently involving 64 patients, the trial aims to improve treatment options for small vessel disease and is expected to conclude in 2024.*
Article Synopsis
- The ChiCaP study investigates the role of childhood cancer predisposition (ChiCaP) syndromes and how integrating germline whole-genome sequencing (gWGS) with tumor sequencing can improve diagnosis and treatment strategies for children with solid tumors.
- Out of 309 children tested, 11% were diagnosed with ChiCaP syndromes, often missed before, showing significant diagnostic yield especially in certain cancers like retinoblastomas and high-grade astrocytomas.
- The findings underscore the importance of combining systematic phenotyping and genomic diagnostics, as it enables personalized care and tailored treatment recommendations for a substantial number of affected patients.