Kaili Yin

Abstract This study aimed to resolve diagnostic discrepancies in which expanded carrier screening (ECS) in a healthy population suggested hemophilia A carrier status due to F8 intron 22 inversion (Inv22), while further analysis revealed a true distal Xq28 duplication. We evaluated the clinical utility of integrated genetic technologies in distinguishing between these two entities.

Keywords neuronal reprogramming spinal cord injury astrocytes motor neuron CRISPRa Introduction Spinal cord injury (SCI) is a devastating disorder of the central nervous system (CNS) that often leads to permanent neurological impairment and even disability in patients.1,2 In SCI, a series of pathological changes ultimately result in neuronal loss and the formation of glial scars.3 The glial scar is mainly generated by reactive astrocytes, which form a physical barrier surrounding the injury...

1 Introduction The implementation of next-generation sequencing (NGS) technologies, particularly whole exome sequencing (WES) and whole genome sequencing, has revolutionized the diagnosis of genetic disorders over the past decade. Despite improved diagnostic rates, approximately 60%–70% of patients still lack a definitive genetic diagnosis [1, 2].