Publications by authors named "K Retterer"
Article Synopsis
- The ongoing GUARDIAN study aims to evaluate the feasibility and acceptability of genome sequencing as an addition to traditional newborn screening across diverse racial and ethnic groups in New York City.
- As of the interim analysis covering 4,000 newborns, 72% of approached families consented to participate, reflecting a representative sample of various racial and ethnic demographics.
- The study primarily assessed the screen-positive rate, enrollment rate, and successful sequencing completion, with a large majority of families opting to screen for both early-onset genetic conditions and additional neurodevelopmental disorders.
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries.
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- The study explored the phenotypic spectrum of X-linked Alport Syndrome (AS) using a diverse patient group from the Geisinger MyCode study, focusing on both males and females.
- Among 170,856 patients, specific pathogenic variants were identified, revealing high penetrance rates and significant AS features, particularly in males with certain variants.
- The findings highlighted increased risks of AS-related symptoms compared to controls and emphasized the need for better screening and recognition of AS diagnoses among affected individuals.
Article Synopsis
- The study investigates protein-truncating variants (PTVs) that may bypass nonsense-mediated decay (NMD) in 29,031 neurodevelopmental disorder (NDD) parent-offspring trios, identifying significant de novo mutations (DNMs).
- Researchers found 1,376 PTVs in 133 genes significantly associated with Mendelian diseases, including known disease genes like SEMA6B and PPM1D, and uncovered 22 additional genes with potential disease links.
- The analysis highlights phenotypic similarities among individuals with PTVs in the same genes, suggesting novel disease associations in genes not previously linked to Mendelian conditions.