Jeanne Amiel
Délégation Paris 5(FR)Hôpital Necker-Enfants Malades(FR)Inserm(FR)Université Paris Cité(FR)Institut Necker Enfants Malades(FR)Sorbonne Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)Hôpital des Enfants(FR)Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research
Most-Cited Works
- → Lamin A Truncation in Hutchinson-Gilford Progeria(2003)1,454 cited
- → Hirschsprung disease, associated syndromes and genetics: a review(2007)1,197 cited
- → Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma(2008)890 cited
- → Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome(2003)854 cited
- → SOX10 mutations in patients with Waardenburg-Hirschsprung disease(1998)818 cited
- → ACTIVE IMMUNOTHERAPY FOR ACUTE LYMPHOBLASTIC LEUKÆMIA(1969)612 cited