Xingyu Pan

Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

Yong-yi Ma, Xu Zhang, Xiaoduo Li, 2022, BMC Medical Genomics.

5'-UTR SNP of FGF13 causes translational defect and intellectual disability

Zefeng Wang, Xu Zhang, L. Bao, 2021, eLife.

α-TubK40me3 is required for neuronal polarization and migration by promoting microtubule formation

Weiguo Zou, L. Bao, Lei Diao, 2021, Nature Communications.

Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome

Xu Zhang, Sihan Liu, H. Yao, 2022, Frontiers in Genetics.

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

Yang Liu, Xu Zhang, Li Liu, 2021, Frontiers in Pediatrics.

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

Sihan Liu, H. Yao, Xiaojing Dong, 2023, Frontiers in pediatrics.

Characterization of a human placental clearance system to regulate serotonin levels in the fetoplacental unit

U. Markert, F. Staud, Xiaojing Dong, 2023, Reproductive Biology and Endocrinology.

Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations

Li Liu, Bo-tao Tan, Xingyu Pan, 2023, Journal of Human Genetics.