Publications and ressources

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

Sophie Saunier

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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Sophie Saunier

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Corinne Antignac, Géraldine Mollet, Christelle Arrondel, Olivia Boyer

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

Cécile Jeanpierre

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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

Alexandre Benmerah

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Cécile Jeanpierre

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Sophie Saunier

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Sophie Saunier

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Lysosomal Targeting of Cystinosin Requires AP-3.

Corinne Antignac

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