Shuyuan Li

9PUBLICATIONS
9CO-AUTHORS
NeurogeneticsCancer diagnosisDevelopmental genetics (incl. sex determination)Central nervous systemMedical molecular engineering of nucleic acids and proteins
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Publications (9)

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

|Mar 27, 2026
A Diagnostic Odyssey in a Family with Multiple Osteochondromas.

Yan Xu, Niu Li, Jian Wang

|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

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Frequent Collaborators

4 joint publications

Jian Wang

2 joint publications

Yiyao Chen

1 joint publications

Hongjun Fei

1 joint publications

Xu Han