Publications by authors named "C Antignac"

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Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.
Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, Vincent Morinière, Alexandre Benmerah, Corinne Antignac

Clin J Am Soc Nephrol· December 2025

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Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.
Hassan Saei, Bruno Estebe, Nicolas Goudin, Mahsa Esmailpour, Julie Haure, Corinne Antignac

JCI Insight· December 2025

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Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).
Lucie Menguy, Laurent Hudier, Mohamad Zaidan, Bertrand Knebelmann, John A Sayer, Corinne Antignac

Kidney Int· October 2025

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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia, Zahra Assouline, Corinne Antignac

Pediatr Nephrol· September 2025

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Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Jessica Kachmar, Hassan Saei, Vincent Morinière, Laurence Heidet, Bertrand Knebelmann, Corinne Antignac

Am J Kidney Dis· May 2025

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