Publications by authors named "YuJin Qu"

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A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.
Jinli Bai, Ping Li, Hui Jiao, Yuwei Jin, Hong Wang, Yujin Qu

Ital J Pediatr· July 2025

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[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].
Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Xiaoyin Peng, Yujin Qu

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· October 2024

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Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yujin Qu

Front Neurol· October 2024

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Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yujin Qu

Front Neurol· September 2024

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Variants located in intron 6 of lead to misdiagnosis in genetic detection and screening for SMA.
Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang

Heliyon· March 2024

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A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Jinli Bai, Yujin Qu, Wenchen Huang, Wanli Meng, Jiahan Zhan

Clin Chim Acta· January 2024

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Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.
Jinli Bai, Yujin Qu, Shijia OuYang, Hui Jiao, Yang Wang

Neuromuscul Disord· May 2023

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Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Jia Wang, Jinli Bai, Shijia OuYang, Hong Wang, Yuwei Jin, Yujin Qu

Hum Mol Genet· May 2022

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Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3.
Xiaoyin Peng, Yujin Qu, Xiaohui Li, Junting Liu, Xinying Shan

BMC Musculoskelet Disord· August 2021

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Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay.
Yanyan Cao, Miaomiao Cheng, Yujin Qu, Jinli Bai, Xiaoyin Peng

Neuromuscul Disord· June 2021

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Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.
Cao Yanyan, Cheng Miaomiao, Song Fang, Qu Yujin, Bai Jinli

Yi Chuan· February 2021

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Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
JinLi Bai, YuJin Qu, Fang Song, YanYan Cao, Miaomiao Cheng

J Mol Neurosci· January 2021

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Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China.
Yanyan Cao, Yujin Qu, Jinli Bai, Miaomiao Cheng, Yuwei Jin

J Hum Genet· May 2020

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Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing.
Yan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, Jin-Li Bai, Yu-Wei Jin

Chin Med J (Engl)· December 2018

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The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
JinLi Bai, YuJin Qu, YanYan Cao, Lan Yang, Lin Ge

Gene· February 2018

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p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.
Yu-Jin Qu, Lin Ge, Jin-Li Bai, Yan-Yan Cao, Yu-Wei Jin

Mutat Res· December 2017

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Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.
Jin-Li Bai, Yu-Wei Jin, Yu-Jin Qu, Hong Wang, Yan-Yan Cao

Chin Med J (Engl)· March 2017

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Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Hong Wang, Yu-Wei Jin

J Mol Diagn· September 2016

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A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.
Yu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, Wen-Hui Zhang, Hong Wang

Eur J Hum Genet· June 2016

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X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
Jinli Bai, Yujin Qu, Yanyan Cao, Yan Li, Wenhui Zhang

Mol Med Rep· February 2016

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Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
Yan-yan Cao, Yu-jin Qu, Sheng-xi He, Yan Li, Jin-Ll Bai

J Zhejiang Univ Sci B· January 2016

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A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.
Ying Gao, Jin-li Bai, Xiao-yan Liu, Yu-jin Qu, Yan-yan Cao

J Zhejiang Univ Sci B· November 2015

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[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
Yanyan Cao, Yujin Qu, Fang Song, Jinli Bai, Yuwei Jin

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· February 2015

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[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].
Wenhui Zhang, Yanyan Cao, Fang Song, Yujin Qu, Jinli Bai

Zhonghua Yi Xue Za Zhi· February 2015

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Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Yan-yan Cao, Yu-jin Qu, Fang Song, Ting Zhang, Jin-li Bai

Mol Genet Metab· December 2014

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