Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

Alexandre Pattyn, Xavier Morin, Harold Cremer et al. · Nature · 1999 · 871 citations

Neuroregeneration, Developmental Biology, Molecular Physiology +9

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

Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach et al. · Nature Genetics · 2003 · 850 citations · Full text

Genetic Disorder, Genetics, Inherited Metabolic Disease +8

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

Debra E. Weese‐Mayer, Elizabeth Berry‐Kravis, Lili Zhou et al. · American Journal of Medical Genetics Part A · 2003 · 378 citations

Edgetic perturbation models of human inherited disorders

Quan Zhong, Nicolas Simonis, Qianru Li et al. · Molecular Systems Biology · 2009 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Neuroanatomy +5

Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey et al. · The American Journal of Human Genetics · 2004 · 347 citations

Neuro-oncology, Somatic Variant, Glioma +8