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2005 2
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Did you mean ilsong shi (1 results)?
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R, Cohen ASA, Poulton C, Hjortshøj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Singh R, et al. Among authors: shi l. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005991. doi: 10.1101/mcs.a005991. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 34117072 Free PMC article.
Robust identification of mosaic variants in congenital heart disease.
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, Seidman JG, Gelb BD. Manheimer KB, et al. Among authors: shi l. Hum Genet. 2018 Feb;137(2):183-193. doi: 10.1007/s00439-018-1871-6. Epub 2018 Feb 7. Hum Genet. 2018. PMID: 29417219 Free PMC article.
An algorithm to identify patients aged 0-3 with rare genetic disorders.
Webb BD, Lau LY, Tsevdos D, Shewcraft RA, Corrigan D, Shi L, Lee S, Tyler J, Li S, Wang Z, Stolovitzky G, Edelmann L, Chen R, Schadt EE, Li L. Webb BD, et al. Among authors: shi l. Orphanet J Rare Dis. 2024 May 2;19(1):183. doi: 10.1186/s13023-024-03188-9. Orphanet J Rare Dis. 2024. PMID: 38698482 Free PMC article.
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Scott SA, Scott ER, Seki Y, Chen AJ, Wallsten R, Owusu Obeng A, Botton MR, Cody N, Shi H, Zhao G, Brake P, Nicoletti P, Yang Y, Delio M, Shi L, Kornreich R, Schadt EE, Edelmann L. Scott SA, et al. Among authors: shi l. Clin Transl Sci. 2021 Jan;14(1):204-213. doi: 10.1111/cts.12844. Epub 2020 Aug 5. Clin Transl Sci. 2021. PMID: 32931151 Free PMC article.
CADgene: a comprehensive database for coronary artery disease genes.
Liu H, Liu W, Liao Y, Cheng L, Liu Q, Ren X, Shi L, Tu X, Wang QK, Guo AY. Liu H, et al. Among authors: shi l. Nucleic Acids Res. 2011 Jan;39(Database issue):D991-6. doi: 10.1093/nar/gkq1106. Epub 2010 Nov 2. Nucleic Acids Res. 2011. PMID: 21045063 Free PMC article.
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH. Chen R, et al. Among authors: shi l. Nat Biotechnol. 2016 May;34(5):531-8. doi: 10.1038/nbt.3514. Epub 2016 Apr 11. Nat Biotechnol. 2016. PMID: 27065010
33 results