Chao Lu

Beijing, China

Last Updated: 09/26/2026

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Found 17 publications

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Journal: Clinical genetics

Published: March 23, 2026

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.

Journal: The Journal of clinical investigation

Published: June 03, 2025

Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.

Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.

Journal: Cytoskeleton (Hoboken, N.J.)

Published: May 30, 2025

Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.

Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.

Journal: Journal of cellular physiology

Published: August 04, 2023

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Journal: BMC medical genomics

Published: August 30, 2022

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.

Journal: American journal of ophthalmology

Published: July 02, 2022

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.

Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.

Journal: Frontiers in genetics

Published: November 17, 2021

Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 11, 2021

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Journal: Molecular genetics & genomic medicine

Published: February 08, 2021

Prevention and Control of Pathogens Based on Big-Data Mining and Visualization Analysis.

Prevention and Control of Pathogens Based on Big-Data Mining and Visualization Analysis.

Journal: Frontiers in molecular biosciences

Published: November 06, 2020

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 08, 2020

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Journal: Frontiers in genetics

Published: June 25, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026