Yi Tong - Related publications

Beijing Normal University, Beijing, Beijing Shi, China 
Visual system, fMRI
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Lan X, Xu W, Tang X, Ye H, Song X, Lin L, Ren X, Yu G, Zhang H, Wu S. Spectrum of Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma. Frontiers in Genetics. 11: 142. PMID 32218800 DOI: 10.3389/fgene.2020.00142   
2020 Lee JH, Davaatseren M, Lee S. Rare Gene Mutations Causing Parathyroid Disorders: A Review. Endocrinology and Metabolism (Seoul, Korea). 35: 64-70. PMID 32207265 DOI: 10.3803/EnM.2020.35.1.64   
2020 Dunn PJ, Maher BH, Albury CL, Stuart S, Sutherland HG, Maksemous N, Benton MC, Smith RA, Haupt LM, Griffiths LR. Tiered analysis of whole-exome sequencing for epilepsy diagnosis. Molecular Genetics and Genomics : Mgg. PMID 32146541 DOI: 10.1007/s00438-020-01657-x   
2020 Wang X, Zhang Z, Yuan S, Ren J, Qu H, Zhang G, Chen W, Zheng S, Meng L, Bai J, Du Q, Yang D, Shen W. A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia. Medicine. 99: e19244. PMID 32176048 DOI: 10.1097/MD.0000000000019244   
2020 Zheng HY, Wang HB, Shen FJ, Tong YQ, Yao Q, Qiao B, Sun S, Li Y. EGFR Gene Mutation and Methodological Evaluation in 399 Patients with Non-small Cell Lung Cancer. Current Medical Science. 40: 78-84. PMID 32166668 DOI: 10.1007/s11596-020-2149-5   
2020 Lü XD, Li YW, Guo Z, Xin YP, Hu JY, Fan RH, Song YP. [Clinical analysis of gene mutation characteristics and mutation burden in myelodysplastic syndrome]. Zhonghua Yi Xue Za Zhi. 100: 933-937. PMID 32234169 DOI: 10.3760/cma.j.cn112137-20190806-01751   
2020 Zanolli M, Oporto JI, Verdaguer JI, López JP, Zacharías S, Romero P, Ossandón D, Denk O, Acuña O, López JM, Stevenson R, Álamos B, Iturriaga H. Genetic testing for inherited ocular conditions in a developing country. Ophthalmic Genetics. 1-5. PMID 32141364 DOI: 10.1080/13816810.2020.1734944   
2020 Oono Y, Ichida H, Morita R, Nozawa S, Satoh K, Shimizu A, Abe T, Kato H, Hase Y. Genome sequencing of ion-beam-induced mutants facilitates detection of candidate genes responsible for phenotypes of mutants in rice. Mutation Research. 821: 111691. PMID 32171089 DOI: 10.1016/j.mrfmmm.2020.111691   
2020 Gao Z, Yuan YS. Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study. Medicine. 99: e19373. PMID 32221064 DOI: 10.1097/MD.0000000000019373   
2020 Xu X, Yang X, Su Z, Wang H, Li X, Sun C, Wang W, Chen Y, Zhang C, Zhang H, Jin F, Zheng J. Identification of Novel Compound Heterozygous Mutations in the Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy. Frontiers in Neuroscience. 14: 85. PMID 32158379 DOI: 10.3389/fnins.2020.00085   
2020 Ren SM, Kong XD, Wu QH, Jiao ZH, Chen C, Qin ZB. [Analysis of genetic variation in patients with Waardenburg syndrome type Ⅱ by next generation sequencing]. Zhonghua Yi Xue Za Zhi. 100: 853-858. PMID 32234158 DOI: 10.3760/cma.j.cn112137-20190730-01692   
2020 Chen Z, Yuan Y, Chen X, Chen J, Lin S, Li X, Du H. Systematic comparison of somatic variant calling performance among different sequencing depth and mutation frequency. Scientific Reports. 10: 3501. PMID 32103116 DOI: 10.1038/s41598-020-60559-5   
2020 Masunaga N, Kagara N, Motooka D, Nakamura S, Miyake T, Tanei T, Naoi Y, Shimoda M, Shimazu K, Kim SJ, Noguchi S. Molecular Barcode Sequencing of the Whole Ligand Binding Domain of the ESR1 Gene in Cell-Free DNA from Patients with Metastatic Breast Cancer. Translational Oncology. 13: 100735. PMID 32105989 DOI: 10.1016/j.tranon.2019.12.007   
2020 Xiao C, Yu M, Liu J, Wu H, Deng M, Zhang Q, Xiao X. Generation of an isogenic gene-corrected iPSC line (PUMCHi001-A-1) from a familial partial lipodystrophy type 2 (FPLD2) patient with a heterozygous R349W mutation in the LMNA gene. Stem Cell Research. 44: 101753. PMID 32213461 DOI: 10.1016/j.scr.2020.101753   
2020 Li J, Song Y, Zhang Y, Li H, Tian M, Li D, Zhang S, Cao G, Liu C. A novel compound heterozygous mutation in in a Chinese patient causes atypical hemolytic uremic syndrome. Hematology (Amsterdam, Netherlands). 25: 101-107. PMID 32091318 DOI: 10.1080/16078454.2020.1731969   
2020 Choudhury A, Fenster JA, Fankhauser RG, Kaar JL, Tenaillon O, Gill RT. CRISPR/Cas9 recombineering-mediated deep mutational scanning of essential genes in Escherichia coli. Molecular Systems Biology. 16: e9265. PMID 32175691 DOI: 10.15252/msb.20199265   
2020 Bhan I, Ting DT. Re: "Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease". Hepatology (Baltimore, Md.). PMID 32034958 DOI: 10.1002/hep.31169   
2020 Wang Y, Jiang T, Tang P, Wu Y, Jiang Z, Dai J, Gu Y, Xu J, Da M, Ma H, Jin G, Mo X, Li Q, Wang X, Hu Z. Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of Fallot. Gene. 144555. PMID 32165302 DOI: 10.1016/j.gene.2020.144555   
2020 Chen D, Zhao Q, Xiong J, Lou X, Han Q, Wei X, Xie J, Li X, Zhou H, Shen L, Yang Y, Fang H, Lyu J. Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Molecular Genetics & Genomic Medicine. e1199. PMID 32162843 DOI: 10.1002/mgg3.1199   
2020 Shen Y, Ha W, Zeng W, Queen D, Liu L. Exome sequencing identifies novel mutation signatures of UV radiation and trichostatin A in primary human keratinocytes. Scientific Reports. 10: 4943. PMID 32188867 DOI: 10.1038/s41598-020-61807-4   
2020 Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, Schreiber AW, Feng J, Phillips K, Wang PPS, Ha T, Homan CC, King-Smith SL, Rawlings L, Vakulin C, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Advances. 4: 1131-1144. PMID 32208489 DOI: 10.1182/bloodadvances.2019000901   
2020 Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, et al. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Frontiers in Genetics. 11: 131. PMID 32194622 DOI: 10.3389/fgene.2020.00131   
2020 Zhu Y, Ong CS, Huttley GA. Machine Learning Techniques for Classifying the Mutagenic Origins of Point Mutations. Genetics. PMID 32193188 DOI: 10.1534/genetics.120.303093   
2020 Nadeu F, Diaz-Navarro A, Delgado J, Puente XS, Campo E. Genomic and Epigenomic Alterations in Chronic Lymphocytic Leukemia. Annual Review of Pathology. 15: 149-177. PMID 31977296 DOI: 10.1146/annurev-pathmechdis-012419-032810   
2020 Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente A, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, Vega A. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. Plos One. 15: e0229025. PMID 32069299 DOI: 10.1371/journal.pone.0229025   
2020 Martins RG, Cunha N, Simões H, Matos MJ, Silva J, Torres I, Rodrigues F, Leite V, Teixeira MR, Bugalho MJ. Surveillance of succinate dehydrogenase gene mutation carriers: insights from a nationwide cohort. Clinical Endocrinology. PMID 32181896 DOI: 10.1111/cen.14184   
2020 Hou J, Liu G, Zhang P, Wang B, Yan Q, Wu P, Wang C, Yao W. Experimental Study of Somatic Variants of Osteosarcoma by Whole-Exome Sequencing. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 26: e920826. PMID 32193367 DOI: 10.12659/MSM.920826   
2020 Nakra T, Mehta A, Bal A, Nambirajan A, Mishra D, Midha D, Gupta N, Arora N, Gupta P, Gupta P, Singh V, Jain D. Epidermal growth factor receptor mutation status in pulmonary adenocarcinoma: Multi-institutional data discussion at national conference of "Lung Cancer Management in Indian context". Current Problems in Cancer. 100561. PMID 32169258 DOI: 10.1016/j.currproblcancer.2020.100561   
2020 Liu Y, Sang S, Ling J, He C, Mei L, Feng Y. [Application of PCR reverse dot blot in non-syndromic deafness gene detection]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 34: 153-157. PMID 32086922 DOI: 10.13201/j.issn.1001-1781.2020.02.013   
2020 Yu J, Li Y, Zhang D, Wan D, Jiang Z. Clinical implications of recurrent gene mutations in acute myeloid leukemia. Experimental Hematology & Oncology. 9: 4. PMID 32231866 DOI: 10.1186/s40164-020-00161-7   
2020 Liu Q, Zhu S. Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family. Bioscience Reports. 40. PMID 32010934 DOI: 10.1042/BSR20191349   
2020 Lin L, Wang Y, Liu L, Ying W, Wang W, Sun B, Sun J, Wang X. Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation. Genes & Diseases. 7: 122-127. PMID 32181283 DOI: 10.1016/j.gendis.2019.10.008   
2020 Thanh DC, Ngoc CTB, Nguyen NL, Vu CD, Tung NV, Nguyen HH. De novo Mutations in Vietnamese Patients with Cornelia de Lange Syndrome. Medicina (Kaunas, Lithuania). 56. PMID 32074972 DOI: 10.3390/medicina56020076   
2020 Ropero P, Arbeteta J, Nieto JM, González FA, González B, Villegas A, Benavente C. Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene. Hemoglobin. 1-3. PMID 32000548 DOI: 10.1080/03630269.2020.1721020   
2020 Hoofd C, Huang SJ, Gusscott S, Lam S, Wong R, Johnston A, Ben-Neriah S, Steidl C, Scott DW, Bruyere H, Gillan TL, Toze CL, Gerrie AS, Weng AP. Ultrasensitive detection of NOTCH1 delCT mutations in chronic lymphocytic leukemia by ddPCR reveals high frequency of subclonal mutations and predicts clinical outcome in cases with trisomy 12. The Journal of Molecular Diagnostics : Jmd. PMID 32036086 DOI: 10.1016/j.jmoldx.2020.01.008   
2020 Cortés NG, Pertuiset C, Dumon E, Börlin M, Da Costa B, Le Guédard M, Stojkovic T, Loundon N, Rouillon I, Nadjar Y, Letellier T, Jonard L, Marlin S, Rocher C. Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. Human Molecular Genetics. PMID 32011699 DOI: 10.1093/hmg/ddaa020   
2020 Reyna MA, Haan D, Paczkowska M, Verbeke LPC, Vazquez M, Kahraman A, Pulido-Tamayo S, Barenboim J, Wadi L, Dhingra P, Shrestha R, Getz G, Lawrence MS, Pedersen JS, Rubin MA, ... , ... , et al. Pathway and network analysis of more than 2500 whole cancer genomes. Nature Communications. 11: 729. PMID 32024854 DOI: 10.1038/s41467-020-14367-0   
2020 Dietlein F, Weghorn D, Taylor-Weiner A, Richters A, Reardon B, Liu D, Lander ES, Van Allen EM, Sunyaev SR. Identification of cancer driver genes based on nucleotide context. Nature Genetics. PMID 32015527 DOI: 10.1038/s41588-019-0572-y   
2020 Stephenson A, Lau L, Eszlinger M, Paschke R. The Thyroid Stimulating Hormone Receptor Mutation Database Update. Thyroid : Official Journal of the American Thyroid Association. PMID 32111150 DOI: 10.1089/thy.2019.0807   
2020 Huang S, Yang L, Zhao L, Xu R, Wu Y. Novel In-Frame Deletion Mutation in in a Chinese Sporadic Case of Adams-Oliver Syndrome. Dna and Cell Biology. PMID 32129674 DOI: 10.1089/dna.2019.5200   
2020 Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, et al. Clinical features of inherited neuropathy with BSCL2 mutations in Japan. Journal of the Peripheral Nervous System : Jpns. PMID 32108980 DOI: 10.1111/jns.12369   
2020 Raghav L, Chang YH, Hsu YC, Li YC, Chen CY, Yang TY, Chen KC, Hsu KH, Tseng JS, Chuang CY, Lee MH, Wang CL, Chen HW, Yu SL, Su SF, et al. Landscape of Mitochondria Genome and Clinical Outcomes in Stage 1 Lung Adenocarcinoma. Cancers. 12. PMID 32210009 DOI: 10.3390/cancers12030755   
2020 Meng X, Li Y, Lian Y, Li Y, Du L, Xie N, Wang C. A new compound heterozygous mutation in adult-onset Krabbe disease. The International Journal of Neuroscience. 1-9. PMID 32064984 DOI: 10.1080/00207454.2020.1731504   
2020 Zhang L, Zhang Z, Bi X, Mao Y, Cheng Y, Zhu P, Xu S, Wang Y, Zhan X, Fan J, Yuan Y, Bi H, Wu X. Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly. Journal of Human Genetics. PMID 32051522 DOI: 10.1038/s10038-020-0731-0   
2020 Hemwong N, Phokaew C, Srichomthong C, Tongkobpetch S, Srilanchakon K, Supornsilchai V, Suphapeetiporn K, Porntaveetus T, Shotelersuk V. A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in and . Journal of Advanced Research. 21: 121-127. PMID 32071780 DOI: 10.1016/j.jare.2019.10.006   
2020 Weiner C, Hecht I, Rotenstreich Y, Guttman S, Or L, Morad Y, Shapira G, Shomron N, Pras E. The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. Experimental Eye Research. 193: 107958. PMID 32032626 DOI: 10.1016/j.exer.2020.107958   
2020 Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI. Haplotype Analysis of Mutations: Founder Effect or Mutational Hot Spot? Genes. 11. PMID 32120898 DOI: 10.3390/genes11030250   
2020 Ma L, Tan X, Li J, Long Y, Xiao Z, De J, Ren Y, Tian H, Md TC. A NOVEL GLUCOCORTICOID RECEPTOR MUTATION IN PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE DISEASE. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. PMID 32045292 DOI: 10.4158/EP-2019-0475   
2020 Bui CB, Duong TTP, Tran VT, Pham TTT, Vu T, Chau GC, Vo TV, Nguyen V, Trinh DT, Hoang MV. A novel nonsense mutation of in a Vietnamese family with xeroderma pigmentosum syndrome group D. Human Genome Variation. 7: 2. PMID 32047639 DOI: 10.1038/s41439-020-0089-z   
2020 Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, Hsu TR, Yang CF, Nakamura K, Niu DM. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago. Journal of Human Genetics. PMID 32246049 DOI: 10.1038/s10038-020-0745-7