Kexin X. Jiao

12 Middle Wulumuqi Road
Shanghai, 200040, China

Last Updated: 09/26/2026

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Found 28 publications

High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.

High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population.

Journal: Molecular genetics and metabolism

Published: December 20, 2025

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.

PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.

Journal: Health information science and systems

Published: November 25, 2025

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Journal: Human molecular genetics

Published: November 17, 2025

Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study.

Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study.

Journal: Molecular genetics and metabolism

Published: November 11, 2025

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.

Journal: Journal of human genetics

Published: September 16, 2025

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Journal: Neuromuscular disorders : NMD

Published: May 26, 2025

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Journal: Journal of human genetics

Published: February 21, 2025

Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.

Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.

Journal: Brain : a journal of neurology

Published: February 20, 2025

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Journal: Stem cell research

Published: July 05, 2024

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

Journal: The Journal of molecular diagnostics : JMD

Published: July 04, 2024

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Journal: Journal of inherited metabolic disease

Published: June 12, 2024

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Journal: Journal of medical genetics

Published: May 30, 2024

Showing 1-12 of 28

Last Updated: 09/26/2026