Zhengjun Jia

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel

Xiao Mao, Nadine Bruneau, Quwen Gao et al. · Frontiers in Cellular Neuroscience · 2020 · 86 citations · Full text

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Na Ma, Hui Xi, Jing Chen et al. · BMC Medical Genomics · 2021 · 72 citations · Full text

Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping

Hui Wang, Zhengjun Jia, Aiping Mao et al. · Journal of Assisted Reproduction and Genetics · 2020 · 50 citations · Full text

Engineering, Biomedical Optic, Balanced Reciprocal Translocations +11

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Yan Huang, Xiao Mao, Richard H. van Jaarsveld et al. · Human Molecular Genetics · 2020 · 29 citations · Full text

Genetics, Cytoskeleton, Actin Polymerization +21

Identification of rare thalassemia variants using third-generation sequencing

Qin Liu, Qianting Chen, Zonglei Zhang et al. · Frontiers in Genetics · 2023 · 16 citations · Full text

Genetics, Human Polymorphism, Genomics +16