Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

By J. Amiel, B. Laudier, T. Attié-Bitach, H. Trang, L. Pontual, B. Gener, D. Trochet, H. Etchevers, P. Ray, M. Simonneau and 4 more. Nature Genetics, 2003

834 citations recorded by the source corpus.

Subfields: Endocrine and Autonomic Systems, Pulmonary and Respiratory Medicine, Surgery

View Paper: https://www.semanticscholar.org/paper/d57adbc1e586544f21292f973a7ec6dc9b564a4d

Citations in the corpus

• ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions (2019, neutral): “Consistent with what is known about this repeat (Amiel et al. 2003), all but a few controls were genotyped 20/20.”