Concepedia
Statistics
Publications
7
Citations
187
H-Index
Active since
2014
Affiliations
BGI Group (China)(Current)
National Institute for Biotechnology and Genetic Engineering
Pakistan Institute of Engineering and Applied Sciences
University of Chinese Academy of Sciences
BGI Genomics
Sijie He is an author at BGI Group (China) specializing in life sciences, molecular genetics, and genetics.
Publications per year
2014–2021
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
Xiaodong Cai, Xin Chen, Song Wu et al. · Scientific Reports · 2016 · 55 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
Berta Almoguera, Sijie He, Marta Cortón et al. · Orphanet Journal of Rare Diseases · 2014 · 43 citations · Full text
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Farid Ullah, Waqar Rauf, Kamal Khan et al. · Human Genetics · 2021 · 30 citations
A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family
Juan Bu, Sijie He, Lejin Wang et al. · Indian Journal of Ophthalmology · 2016 · 15 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
Yingjie Zhou, Muhammad Tariq, Sijie He et al. · BMC Medical Genetics · 2020 · 15 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
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