Publications by authors named "I Spier"
Article Synopsis
- - 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
- * A 3-year study, TRANSLATE NAMSE, analyzed data from 1,577 patients, revealing that 32% received molecular diagnoses involving 370 distinct causes, primarily uncommon.
- * The research showed that combining next-generation sequencing with advanced phenotyping methods improved diagnostic efficiency and helped identify new genotype-phenotype associations, particularly in neurodevelopmental disorders.
Article Synopsis
- The study focused on improving the classification of genetic variants linked to familial adenomatous polyposis using APC-specific criteria developed by an expert panel.
- A total of 10,228 unique variants were analyzed, resulting in 41% of VUS from ClinVar and 61% from LOVD being reclassified, primarily as (Likely) Benign, which reduced the overall VUS by 37%.
- The research highlighted a systematic approach to variant classification in large datasets that could be applied to other gene/disease interpretations and allowed for prioritization of VUS requiring further evidence collection.
Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or the EPCAM gene, leading to a less functional DNA MMR system. Individuals diagnosed with LS (LS individuals) have a 10-80% lifetime risk of developing cancer.
View Article and Find Full Text PDFIntroduction: Endoscopic techniques are now considered the first-line approach for the management of bariatric surgery-related fistulas. The off-label use of cardiac septal defect occluders (CSDO) is an emerging technique that has demonstrated favorable outcomes for the closure of extravascular defects, including gastrointestinal (GI) disruptions. Previous case reports have reported similar results with the CSDO Amplatzer™ for the management of GI disruptions following bariatric surgery.
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