Cecile Jeanpierre

Summary

Country: France

Publications

  1. Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, et al. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014;94:288-94 pubmed publisher
    ..These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease...
  2. Heidet L, Moriniere V, Henry C, De Tomasi L, Reilly M, Humbert C, et al. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017;28:2901-2914 pubmed publisher
    ..Targeted exome sequencing also proved to be an efficient and cost-effective strategy to identify pathogenic mutations and deletions in known CAKUT genes. ..
  3. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am J Hum Genet. 2017;101:803-814 pubmed publisher
    ..This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans. ..