nord 最新版2025

• Editorial: Pediatric genetics
• Identification of novel compound heterozygous mutations in ABCA3 lipid transporter in a neonate with respiratory failure
• Evaluation of causal alterations, prevalence of mosaicism in disease-causing variants, and diagnostic yield in a clinical exome sequencing cohort of 357 pediatric patients
• A novel IRAK4 variant identified in an 11-month-old boy with concurrent bacterial infections and a blunted inflammatory response to invasive infection
• New insights into an important mechanism of early-onset Wilson disease caused by ATP7B exon skipping
• RNA-based analysis aids in variant interpretation for a boy with reticular dysgenesis