Year |
Citation |
Score |
2021 |
Lin L, Li M, Luo J, Li P, Zhou S, Yang Y, Chen K, Weng Y, Ge X, Mireguli M, Wei H, Yang H, Li G, Sun Y, Cui L, ... Zhang S, et al. A high proportion of novel ACAN mutations and their prevalence in a large cohort of Chinese short stature children. The Journal of Clinical Endocrinology and Metabolism. PMID 33606014 DOI: 10.1210/clinem/dgab088 |
0.335 |
|
2020 |
Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Clinical and Laboratory Interpretation of Mitochondrial mRNA Variants. Human Mutation. PMID 32652755 DOI: 10.1002/Humu.24082 |
0.307 |
|
2019 |
Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene () causing pyruvate dehydrogenase complex deficiency. Jimd Reports. 48: 26-35. PMID 31392110 DOI: 10.1002/jmd2.12054 |
0.337 |
|
2018 |
Xu Z, Zhou A, Wu J, Zhou A, Li J, Zhang S, Wu W, Karakousis PC, Yao YF. Transcriptional Approach for Decoding the Mechanism of Compensatory Mutations for the Fitness Cost in Rifampicin-Resistant . Frontiers in Microbiology. 9: 2895. PMID 30555440 DOI: 10.3389/fmicb.2018.02895 |
0.337 |
|
2015 |
Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. European Journal of Medical Genetics. PMID 26386245 DOI: 10.1016/j.ejmg.2015.09.007 |
0.32 |
|
2015 |
Deeb KK, Metcalf JD, Sesock KM, Shen J, Wensel CA, Rippel LI, Smith M, Chapman MS, Zhang S. The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform. The Journal of Molecular Diagnostics : Jmd. 17: 360-5. PMID 25956447 DOI: 10.1016/j.jmoldx.2015.02.005 |
0.328 |
|
2014 |
Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Molecular Genetics and Metabolism Reports. 1: 362-367. PMID 27896109 DOI: 10.1016/J.Ymgmr.2014.08.001 |
0.481 |
|
2014 |
Guda K, Fink SP, Milne GL, Molyneaux N, Ravi L, Lewis SM, Dannenberg AJ, Montgomery CG, Zhang S, Willis J, Wiesner GL, Markowitz SD. Inactivating mutation in the prostaglandin transporter gene, SLCO2A1, associated with familial digital clubbing, colon neoplasia, and NSAID resistance. Cancer Prevention Research (Philadelphia, Pa.). 7: 805-12. PMID 24838973 DOI: 10.1158/1940-6207.Capr-14-0108 |
0.33 |
|
2010 |
Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Molecular Genetics and Metabolism. 100: 296-9. PMID 20462777 DOI: 10.1016/J.Ymgme.2010.04.004 |
0.424 |
|
2010 |
El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Molecular Genetics and Metabolism. 99: 300-8. PMID 20074988 DOI: 10.1016/j.ymgme.2009.10.003 |
0.386 |
|
2010 |
Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Molecular Genetics and Metabolism. 99: 53-7. PMID 19815440 DOI: 10.1016/J.Ymgme.2009.09.003 |
0.45 |
|
2010 |
Wong L, Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Shinawi M. 114 Expanding clinical spectrum of RRM2B mutations to include MNGIE Mitochondrion. 10: 232. DOI: 10.1016/J.Mito.2009.12.106 |
0.443 |
|
2010 |
El-Hattab AW, Li F, Schmitt E, Zhang S, Craigen W, Wong L. 78 MPV17—Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations Mitochondrion. 10: 222. DOI: 10.1016/J.Mito.2009.12.073 |
0.38 |
|
2009 |
Wang FX, Yang LJ, Li M, Zhang SL, Zhu XH. A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. Archives of Dermatological Research. 302: 67-70. PMID 19911186 DOI: 10.1007/s00403-009-1003-1 |
0.33 |
|
2009 |
Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Archives of Neurology. 66: 1028-32. PMID 19667227 DOI: 10.1001/Archneurol.2009.139 |
0.358 |
|
2002 |
Zhang S, Lloyd R, Bowden G, Glickman BW, de Boer JG. Msh2 deficiency increases the mutation frequency in all parts of the mouse colon. Environmental and Molecular Mutagenesis. 40: 243-50. PMID 12489114 DOI: 10.1002/Em.10113 |
0.605 |
|
2002 |
Zhang S, Lloyd R, Bowden G, Glickman BW, de Boer JG. Thymic lymphomas arising in Msh2 deficient mice display a large increase in mutation frequency and an altered mutational spectrum. Mutation Research. 500: 67-74. PMID 11890935 DOI: 10.1016/S0027-5107(01)00297-4 |
0.603 |
|
2001 |
Zhang S, Lloyd R, Bowden G, Glickman BW, de Boer JG. Msh2 DNA mismatch repair gene deficiency and the food-borne mutagen 2-amino-1-methy1-6-phenolimidazo [4,5-b] pyridine (PhIP) synergistically affect mutagenesis in mouse colon. Oncogene. 20: 6066-72. PMID 11593414 DOI: 10.1038/Sj.Onc.1204730 |
0.571 |
|
2001 |
Zhang S, Glickman BW, de Boer JG. Spontaneous mutation of the lacI transgene in rodents: absence of species, strain, and insertion-site influence. Environmental and Molecular Mutagenesis. 37: 141-6. PMID 11246220 DOI: 10.1002/Em.1021 |
0.568 |
|
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