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...
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. ..
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. ..