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Sha Yu
Sha Yu
Fudan University
Missense mutation
Medicine
Pediatrics
Neurological disorder
Biology
3
Papers
15
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Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.
2020
Molecular Genetics & Genomic Medicine
Sha Yu
Wen-Xia Chen
Wei Lu
Chao Chen
Yihua Ni
Bo Duan
Bin Wang
Huijun Wang
Zheng‐min Xu
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Citations (1)
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
2019
Molecular Genetics & Genomic Medicine
Sha Yu
Bingbing Wu
Yanyan Qian
Ping Zhang
Yulan Lu
Xinran Dong
Qing Wang
Xuemei Zhao
Renchao Liu
Wenhao Zhou
Huijun Wang
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Citations (5)
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants
2019
European Journal of Medical Genetics
Hongbo Chen
Yanyan Qian
Sha Yu
Deyong Xiao
Xiao Guo
Qing Wang
Lili Hao
Kai Yan
Yulan Lu
Xinran Dong
Wenhao Zhou
Bingbing Wu
Shuizhen Zhou
Huijun Wang
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Citations (9)
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