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                                  Other Cold Spring Harbor Publications
                                  Other Cold Spring Harbor Publications
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                                  • 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

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                                  Richard Sever interviews Editor-in-Chief Elaine Mardis

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                                  Cold Spring Harbor Molecular Case Studies — an open-access journal in precision medicine. Articles present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The aim is to rapidly share insights into disease development and treatment gained by the application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches to cancer, complex diseases, monogenic disorders, neurological conditions, and infectious disease.

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