Publications by authors named "G Gillessen-kaesbach"
Article Synopsis
- The study analyzed the effectiveness of using trio exome sequencing (ES) to diagnose genetic disorders in families with neurodevelopmental delays, involving 37 families with affected children.
- Findings revealed that 40.5% of index patients had either likely pathogenic or pathogenic genetic variants, with rare variants and two notable genes (GLRA4, NRXN2) identified that need further evaluation.
- No relationship was found between the diagnostic yield and the clinical specificity of the phenotypes, suggesting that trio-ES should be utilized early in the diagnostic process, regardless of the patient's clinical uniqueness.
Purpose: We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis.
Methods: Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affected individuals. Adamts15 expression was analyzed at the single-cell level during murine embryogenesis.
Background: Considering the insufficiently controlled spread of new SARS-CoV-2 variants, partially low vaccination rates, and increased risk of a post-COVID syndrome, well-functioning, targeted intervention measures at local and national levels are urgently needed to contain the SARS-CoV-2 pandemic. Surveillance concepts (cross-sectional, cohorts, clusters) need to be carefully selected to monitor and assess incidence and prevalence at the population level. A critical methodological gap for identifying specific risks/dynamics for SARS-Cov-2 transmission and post-COVID-19-syndrome includes repetitive testing for past or present infection of a defined cohort with simultaneous assessment of symptoms, behavior, risk, and protective factors, as well as quality of life.
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