Sophie Saunier

Hum Mutat 2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...

Nat Genet 2010

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...

J Med Genet 2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...

Am J Hum Genet 2012

TCTN3 mutations cause Mohr-Majewski syndrome.

Hum Mutat 2014

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...

J Cell Biol 2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...

Am J Hum Genet 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...

Kidney Int 2021

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...

Am. J. Hum. Genet. 2017

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

J Biomed Inform 2019

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Nat Commun 2016

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...

Nat. Cell Biol. 2016

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ...

PLoS Genet. 2016

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...

Hum. Mutat. 2017

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Nat Commun 2018

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone...

Hum. Mol. Genet. 2018

A human patient-derived cellular model of Joubert syndrome reveals ciliary de...

Hum. Mol. Genet. 2019

Functional characterization of tektin-1 in motile cilia and evidence for TEKT...

Am. J. Physiol. Renal Physiol.

Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec...

EMBO J. 2019

Cell type-specific regulation of ciliary transition zone assembly in vertebra...

Hum. Mol. Genet. 2019

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...