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Page 1
Did you mean xu qin guo (5 results)?
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
CNSA: a data repository for archiving omics data.
Guo X, Chen F, Gao F, Li L, Liu K, You L, Hua C, Yang F, Liu W, Peng C, Wang L, Yang X, Zhou F, Tong J, Cai J, Li Z, Wan B, Zhang L, Yang T, Zhang M, Yang L, Yang Y, Zeng W, Wang B, Wei X, Xu X. Guo X, et al. Database (Oxford). 2020 Jan 1;2020:baaa055. doi: 10.1093/database/baaa055. Database (Oxford). 2020. PMID: 32705130 Free PMC article.
Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
Test development, optimization and validation of a WGS pipeline for genetic disorders.
Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W. Yang Z, et al. Among authors: guo x. BMC Med Genomics. 2023 Apr 5;16(1):74. doi: 10.1186/s12920-023-01495-x. BMC Med Genomics. 2023. PMID: 37020281 Free PMC article.
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G, Zhou M, Zeng F, Zhang N, Sun Y, Qiao Z, Guo X, Zhou S, Yun G, Xie J, Wang X, Liu F, Fan C, Wang Y, Fang Z, Tian Z, Dai W, Sun J, Peng Z, Song L. Zhou G, et al. Among authors: guo x. Medicine (Baltimore). 2022 Mar 11;101(10):e28972. doi: 10.1097/MD.0000000000028972. Medicine (Baltimore). 2022. PMID: 35451387 Free PMC article.
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
Qian Y, Sun Y, Guo X, Song L, Sun Y, Gao X, Liu B, Xu Y, Chen N, Chen M, Luo Y, Qiao Z, Fan L, Man J, Zhang K, Wang X, Rong T, Wang Z, Liu F, Zhao J, Wei X, Chen M, Peng Z, Peng H, Sun J, Dong M. Qian Y, et al. Among authors: guo x. J Med Genet. 2023 Oct;60(10):933-938. doi: 10.1136/jmg-2022-109112. Epub 2023 Apr 3. J Med Genet. 2023. PMID: 37012053
34 results