Charline Henry

Supplemental Data Mutations in MAPKBP 1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Helge, Filhol, Sailer, 2017 .

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

E. Molinari, S. Saunier, J. Sayer, 2018, Proceedings of the National Academy of Sciences.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

E. Molinari, A. Filby, S. Saunier, 2017, Human molecular genetics.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

R. Salomon, C. Antignac, S. Saunier, 2017, Journal of the American Society of Nephrology : JASN.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

N. Cengiz, B. Linghu, E. Oakeley, 2017, American journal of human genetics.

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

S. Saunier, C. Bole-Feysot, P. Nitschké, 2016, Human mutation.

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

K. Tory, A. Burgun, R. Salomon, 2023, Kidney international.