Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

by Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu
Published 2019-02-01

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

by Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu
Published 2020-03-01

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1

by Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Published 2018-01-01