Jeanne Amiel

Hirschsprung disease, associated syndromes and genetics: a review

A Chakravarti, G Burzynski, Erasmus Mc, 2001, Journal of Medical Genetics.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

J. Amiel, M. Oufadem, P. Fernandes, 2015, Sleep and Breathing.

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

F. Escande, J. Amiel, M. Delrue, 2014, Clinical genetics.

PAX2 mutations in oligomeganephronia.

S. Lyonnet, M. Gubler, M. Vekemans, 2001, Kidney international.

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

A. Munnich, J. Melki, A. Verloes, 1996, The Journal of clinical investigation.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Expression of the RET proto-oncogene in human embryos.

A. Munnich, S. Lyonnet, M. Vekemans, 1998, American journal of medical genetics.