Delphine Trochet

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

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

A human mutation in Phox2b causes lack of CO ₂ chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

Véronique Dubreuil, Nélina Ramanantsoa, Delphine Trochet et al. · Proceedings of the National Academy of Sciences · 2008 · 299 citations · Full text

Brain Development, Glutamatergic Neurons, Congenital Heart Anomaly +23

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Delphine Trochet, Louise M. O’Brien, David Gozal et al. · The American Journal of Human Genetics · 2005 · 243 citations · Full text

Phox2b Genotype Allows, Genetic Disorder, Genetics +11

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

Delphine Trochet, Seok Jong Hong, Jinkyu Lim et al. · Human Molecular Genetics · 2005 · 143 citations · Full text

Molecular Biology, Alanine Expansion Mutations, Disease Gene Identification +16