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

por Tang, Hui, Guo, Jing, Linpeng, Siyuan, Wu, Lingqian
Publicado 2019

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

por Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Publicado 2019

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

por Zhang, Hongyun, Linpeng, Siyuan, Teng, Yanling, Peng, Can, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2023

Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth

por Bu, Xiufen, Li, Xu, Peng, Can, Li, Hongyu, Zhou, Shihao, Zhu, Zesen, He, Jun, Linpeng, Siyuan
Publicado 2023

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

por Linpeng, Siyuan, Liu, Jing, Pan, Jianyan, Cao, Yingxi, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2018

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

por Liu, Yingdi, Xue, Jinjie, Li, Zhuo, Linpeng, Siyuan, Tan, Hu, Teng, Yanling, Liang, Desheng, Wu, Lingqian
Publicado 2020

A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results

por Bu, Xiufen, Zhou, Shihao, Li, Xu, Li, Shihong, Li, Hongyu, Ding, Siyi, He, Jun, Linpeng, Siyuan
Publicado 2022

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series

por Long, Xigui, Li, Zhuo, Huang, Yanru, Zhang, Li, Lv, Weigang, Teng, Yanling, Linpeng, Siyuan, Liang, Desheng, Wu, Lingqian
Publicado 2019

Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018–2020: A Retrospective Analysis

por Lu, Yanmei, Zhou, Shihao, Linpeng, Siyuan, Ding, Siyi, Li, Shihong, Li, Yujiao, Shi, Liangcheng, He, Jun, Liu, Yalan
Publicado 2022

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis

por Long, Xigui, Huang, Yanru, Tan, Hu, Li, Zhuo, Zhang, Rui, Linpeng, Siyuan, Lv, Weigang, Cao, Yingxi, Li, Haoxian, Liang, Desheng, Wu, Lingqian
Publicado 2018