Sophie Saunier

SH3 domain of human nephrocystin

A. Le Maire, T. Weber, Sophie Saunier, 2005 .

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping

Anita Burgun-Parenthoine, Thomas Bonald, Marc Lelarge, 2019, J. Biomed. Informatics.

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis

Anita Burgun-Parenthoine, Nicolas Garcelon, Carole Faviez, 2021, MIE.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Nephronophthisis

Sophie Saunier, Rémi Salomon, R. Salomon, 2008, Pediatric Nephrology.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.