S. Clauin

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

D. Constam, C. Bellanné-Chantelot, A. Grapin-Botton, 2012, Human mutation.

Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.

J. Schanstra, C. Bellanné-Chantelot, S. Beaufils, 2007, Journal of the American Society of Nephrology : JASN.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

C. Bellanné-Chantelot, S. Beaufils, G. Deschênes, 2006, Journal of the American Society of Nephrology : JASN.

Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5

C. Bellanné-Chantelot, J. Timsit, J. Grünfeld, 2007 .

Register neutropenia: A study of 81 patients from the French Neutropenia Mutations in the ELA2 gene correlate with more severe expression of

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2013 .

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

É. Oksenhendler, W. Vainchenker, T. Leblanc, 2018, Blood.

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

H. Blanché, C. Bellanné-Chantelot, S. Lajic, 2002, The Journal of clinical endocrinology and metabolism.