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Delphine Trochet | doi.page

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Delphine Trochet

Inserm(FR)Sorbonne Université(FR)Institut de Myologie(FR)Centre de Recherche en Myologie

Publications by Year

Research Areas

Neuroscience of respiration and sleep, Neonatal Respiratory Health Research, Cellular transport and secretion, Congenital Diaphragmatic Hernia Studies, Genetic Neurodegenerative Diseases

Most-Cited Works

→ Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome(2003)854 cited
→ Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma(2004)349 cited
→ A human mutation in Phox2b causes lack of CO ₂ chemosensitivity, fatal central apnea, and specific loss of parafacial neurons(2008)307 cited
→ PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome(2005)243 cited
→ Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction(2005)144 cited
→ Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression(2012)104 cited

→ PHOX2B Germline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome(2007)

90 cited

→ Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma(2005)84 cited

→ Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease(2007)80 cited

→ Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome(2008)72 cited