Sophie Saunier

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

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

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Diagnosis support systems for rare diseases: a scoping review.

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

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

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.