Patwari P, Carroll M, Rand C, Kumar R, Harper R, Weese Mayer D. Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. Respir Physiol Neurobiol. 2010;173:322-35 pubmed publisher
..The study of CCHS, with collaboration between physician-scientists and basic scientists, offers a rare opportunity to investigate control of breathing within the complex physiological network of the ANS. ..
Patwari P, Stewart T, Rand C, Carroll M, Kuntz N, Kenny A, et al. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation. Pediatr Res. 2012;71:280-5 pubmed publisher
..We hypothesized that quantitative pupil measures, obtained using pupillometry, would vary between cases with CCHS and controls and within those with CCHS by PHOX2B genotype...