Stanislas Lyonnet & Jeanne Amiel

Embryology and genetics of human malformation

Stanislas Lyonnet & Jeanne Amiel
  • Jeanne Amiel
  • Sophie Thomas
  • Chris Gordon
  • Nadia Bahi-Buisson
  • Sandrine Marlin
  • Françoise Clerget-Darpoux
  • Loïc de Pontual
  • Damien Bonnet
  • Michel Vekemans
  • Nadège Bondurand
  • Véronique Pingault
  • Anne Guimier
  • Sabina Benko
  • Sarah Issa
  • Nadjet Gacem
  • Thuih Linh Le
  • Anna Pelet
  • Myriam Oufadem
  • Nadia Elkhartoufi
  • Kevin Piquand
  • Mara Cavallin
  • Camille Maillard

Meilleures publications

Gordon CT. Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia. Am J Hum Genet. 2015;96:519-31

Guimier A. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet. 2015; 47:1260-3.

Chaoui A. Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations. Hum Mol Genet. 2015;24:4933-4.

Alby C. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015;97:311-8.

DE PONTUAL L Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans Nat Genet 2011 43:1026-30

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Embryology and genetics of human malformation

Our research program is aiming to identify genes or non- coding genomic alterations responsible for congenital malformations and answer important questions in clinics, biology and developmental genetics. We have a special interest for tissues derived from the neural crest (neurocristopathies), and ciliopathies.

The neural crest is a transitory embryonic structure that participates to the development of many structures. We have a long lasting interest on the development of the enteric nervous systems and Hirschsprung disease, a model for complex oligogenic and sex-dependent inheritance.

In collaboration with many reference centers for rare diseases on the Necker Hospital campus we also developed research projects on craniofacial (especially mandibulofacial dysostoses), syndromic deafness and cardiac malformations through NGS, in vitro and in vivo analysis in zebra fish and mice.

Ciliopathies are a fast growing group of diseases that are the consequence of an abnormal genesis or functioning of the motile and/or primary cilia. Our work on ciliopathies contributes to the understanding of primary cilium formation and links extreme lethal phenotypes with viable syndromes. A recent focus has been made on corpus callosum agenesis, the most frequent brain malformation, as well as brain neuronal migration defect.