Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Overview of attention for article published in Frontiers in Genetics, July 2022

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Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies

Article in Nature Reviews Nephrology (October 2023)

Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations.

Article in Chinese journal of contemporary pediatrics (August 2023)

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Article in Genes (July 2023)

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