Publications scientifiques
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2025
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol
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2025
Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Sig..., Kidney Int Rep
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2025
Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis., Kidney Int Rep
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2023
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu..., Front Mol Biosci
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2022
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders..., J Bone Miner Res
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2022
Agonists of prostaglandin E receptors as potential first in class treatment f..., Proc Natl Acad Sci U S A
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2021
Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis., Front Cell Dev Biol
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2019
Cilia in hereditary cerebral anomalies., Biol Cell
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2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet
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2019
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De..., Am J Hum Genet
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2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney deve..., Hum Mol Genet
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2017
Functional characterization of tektin-1 in motile cilia and evidence for TEKT..., Hum Mol Genet
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2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
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2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
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2015
Lysosomal Targeting of Cystinosin Requires AP-3., Traffic