Chunquan Cai

21PUBLICATIONS
11CO-AUTHORS
Neurology and neuromuscular diseasesSocial epidemiologyEpigenetics (incl. genome methylation and epigenomics)Gene mappingNeurogenetics
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Publications (21)

|Jul 24, 2026
Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

|May 30, 2026
Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

|Jan 22, 2026
Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study.

Ruidi Sun, Jing Wang, Jie Han

|Jun 23, 2025
Association of IRX6 rs6499755 and HAAO rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han Population.

Nan Liu, Yuping Yu, Ziying Chen

|Nov 05, 2024
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions.

Yan Dong, Shuyue Zhang, Hong Wang

|Oct 14, 2024
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

Xiaoyu Liu, Wenchao Sheng, Nan Liu

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Frequent Collaborators

3 joint publications

Jianbo Shu

1 joint publications

Ling Lv

1 joint publications

Mingbang Wang

1 joint publications

Yan Xue