C. Henry

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

Laurence Heidet, Vincent Morinière, C. Henry et al. · Journal of the American Society of Nephrology · 2017 · 116 citations · Full text

Sequencing the <i>erb</i> A Gene of Avian Erythroblastosis Virus Reveals a New Type of Oncogene

Brigitte Debuire, C. Henry, M. Bernissa et al. · Science · 1984 · 110 citations

<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

M Girard, Albane A. Bizet, Alain Lachaux et al. · Human Mutation · 2016 · 73 citations

Immunology, Pathology, Disease Gene Identification +17

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

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava et al. · Proceedings of the National Academy of Sciences · 2018 · 68 citations · Full text

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

Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari et al. · Human Molecular Genetics · 2017 · 66 citations · Full text

Joubert Syndrome, Lysosomal Storage Disease, Renal Pathology +22