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Sheng Yi
Sheng Yi
Boston Children's Hospital
Medicine
Proband
Spinal muscular atrophy
Disease
Rare disease
2
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2
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0
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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
2021
Molecular Genetics & Genomic Medicine
Sheng Yi
Yue Zhang
Zailong Qin
Shang Yi
Haiyang Zheng
Jingsi Luo
Qifei Li
Jin Wang
Qi Yang
Mengting Li
Fei Chen
Qiang Zhang
Qinle Zhang
Yiping Shen
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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.
2020
Molecular Genetics & Genomic Medicine
Weiliang Lu
Mingxing Liang
Jiasun Su
Jin Wang
Lingxiao Li
Shujie Zhang
Zailong Qin
Limei Huang
Yingchi Lu
Shang Yi
Sheng Yi
Bobo Xie
Haiyang Zheng
Jingsi Luo
Xiaoyan Gao
Yiping Shen
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