This study describes the 8-year course of physical and psychosocial impairment in middle-aged patients with borderline personality disorder (BPD) and other personality disorders (OPD). This study also compares BPD subgroups (recovered vs. nonrecovered) and explores predictors of physical impairment.
View Article and Find Full Text PDFTransitional cell states are at the crossroads of crucial developmental and regenerative events, yet little is known about how these states emerge and influence outcomes. The alveolar and airway epithelia arise from distal lung multipotent progenitors, which undergo cell fate transitions to form these distinct compartments. The identification and impact of cell states in the developing lung are poorly understood.
View Article and Find Full Text PDFCongenital heart defects (CHD) arise in part due to inherited genetic variants that alter genes and noncoding regulatory elements in the human genome. These variants are thought to act during fetal development to influence the formation of different heart structures. However, identifying the genes, pathways, and cell types that mediate these effects has been challenging due to the immense diversity of cell types involved in heart development as well as the superimposed complexities of interpreting noncoding sequences.
View Article and Find Full Text PDFPurpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or identify missing variants in a clinical setting.
Methods: Over a 2-year period, genetics providers at a single institution referred 26 cases for clinical RNA-seq.