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Jiarui LI - Publications

Affiliations: 
2010-2016 Center for Bioinformatics Peking University, Beijing, Beijing Shi, China 
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15 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Du W, Li J, Tang X, Yu W, Zhao M. CRISPR/SaCas9-based gene editing rescues photoreceptor degeneration throughout a rhodopsin-associated autosomal dominant retinitis pigmentosa mouse model. Experimental Biology and Medicine (Maywood, N.J.). 15353702231199069. PMID 37837380 DOI: 10.1177/15353702231199069  0.302
2023 Liu L, Li J, Li J, Hu H, Liu J, Tang P. Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review. Medicine. 102: e35471. PMID 37832088 DOI: 10.1097/MD.0000000000035471  0.339
2023 Xu N, Cai Y, Li J, Tao T, Liu C, Shen Y, Li X, Zhang L, Zhao M, Shi X, Li J, Huang L. An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis. Jci Insight. PMID 37053012 DOI: 10.1172/jci.insight.167032  0.32
2022 Tang P, Li J, Li J, Yang J, Zhu J. Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report. Medicine. 101: e31172. PMID 36316881 DOI: 10.1097/MD.0000000000031172  0.333
2019 Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30783265 DOI: 10.1038/S41436-019-0461-X  0.632
2019 Zhou WZ, Zhang J, Li Z, Lin X, Li J, Wang S, Yang C, Wu Q, Ye AY, Wang M, Wang D, Pu TZ, Wu YY, Wei L. Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Human Mutation. PMID 30763456 DOI: 10.1002/Humu.23724  0.766
2018 Zhang Q, Yang X, Wang J, Li J, Wu Q, Wen Y, Zhao Y, Zhang X, Yao H, Wu X, Yu S, Wei L, Bao X. Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30405208 DOI: 10.1038/S41436-018-0348-2  0.69
2018 Yang C, Li J, Wu Q, Yang X, Huang AY, Zhang J, Ye AY, Dou Y, Yan L, Zhou WZ, Kong L, Wang M, Ai C, Yang D, Wei L. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database : the Journal of Biological Databases and Curation. 2018. PMID 30339214 DOI: 10.1093/Database/Bay106  0.668
2017 Wang J, Gao H, Bao X, Zhang Q, Li J, Wei L, Wu X, Chen Y, Yu S. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. Bmc Medical Genetics. 18: 104. PMID 28923014 DOI: 10.1186/S12881-017-0460-1  0.623
2017 Zhang Q, Wang J, Li J, Bao X, Zhao Y, Zhang X, Wei L, Wu X. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. Bmc Medical Genetics. 18: 96. PMID 28851325 DOI: 10.1186/S12881-017-0455-Y  0.528
2017 Dou Y, Yang X, Li Z, Wang S, Zhang Z, Ye AY, Yan L, Yang C, Wu Q, Li J, Zhao B, Huang AY, Wei L. Post-zygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. Human Mutation. PMID 28503910 DOI: 10.1002/Humu.23255  0.658
2017 Zhang Q, Zhao Y, Bao X, Luo J, Zhang X, Li J, Wei L, Wu X. Familial cases and male cases with MECP2 mutations. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 28394482 DOI: 10.1002/Ajmg.B.32534  0.541
2015 Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Human Mutation. PMID 26096185 DOI: 10.1002/Humu.22819  0.705
2014 Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. Bmc Medical Genetics. 15: 24. PMID 24564546 DOI: 10.1186/1471-2350-15-24  0.557
2012 Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L. AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Research. 40: D1016-22. PMID 22139918 DOI: 10.1093/Nar/Gkr1145  0.611
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