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Sha Yu
Sha Yu
Boston Children's Hospital
Genetics
Phenotype
Exome sequencing
Biology
Hearing loss
3
Papers
22
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Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
2021
European Journal of Medical Genetics
Sha Yu
Wen-xia Chen
Yun-Fei Zhang
Yihua Ni
Ping Lu
Bin Wang
Yan Wang
Bingbing Wu
Qi Ni
Huijun Wang
Zheng-min Xu
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Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
2021
International Journal of Pediatric Otorhinolaryngology
Sha Yu
Wen-xia Chen
Yun-Fei Zhang
Chao Chen
Yihua Ni
Bo Duan
Huijun Wang
Zheng-min Xu
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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
2020
Journal of Medical Genetics
Xinran Dong
Bo Liu
Lin Yang
Huijun Wang
Bingbing Wu
Renchao Liu
Hongbo Chen
Xiang Chen
Sha Yu
Bin Chen
Sujuan Wang
Xiu Xu
Wenhao Zhou
Yulan Lu
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Citations (22)
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