Shuyuan Li

9PUBLICATIONS
9CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Central nervous systemMedical molecular engineering of nucleic acids and proteinsEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (9)

|May 30, 2026
Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.

|Jan 23, 2026
Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.

Yimin He, Li Gao, Shixuan Xu

|Dec 26, 2025
Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies.

Yiyao Chen, Li Gao, Xu Han

|Dec 05, 2025
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.

Lanlan Zhang, Renyi Hua, Yiming Wu

|Nov 09, 2025
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Jin Sun, Jie Tang, Lu Wei

|Aug 12, 2025
Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.

Weiliang Lu, Shuyuan Li, Songchang Chen

Pageof 2

Frequent Collaborators

4 joint publications

Jian Wang

2 joint publications

Yiyao Chen

1 joint publications

Hongjun Fei

1 joint publications

Xu Han