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Page 1
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Pericentromeric duplications in the laboratory mouse.
Thomas JW, Schueler MG, Summers TJ, Blakesley RW, McDowell JC, Thomas PJ, Idol JR, Maduro VV, Lee-Lin SQ, Touchman JW, Bouffard GG, Beckstrom-Sternberg SM; NISC Comparative Sequencing Program; Green ED. Thomas JW, et al. Genome Res. 2003 Jan;13(1):55-63. doi: 10.1101/gr.791403. Genome Res. 2003. PMID: 12529306 Free PMC article.
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.
Andrés AM, Dennis MY, Kretzschmar WW, Cannons JL, Lee-Lin SQ, Hurle B; NISC Comparative Sequencing Program; Schwartzberg PL, Williamson SH, Bustamante CD, Nielsen R, Clark AG, Green ED. Andrés AM, et al. Among authors: lee lin sq. PLoS Genet. 2010 Oct 14;6(10):e1001157. doi: 10.1371/journal.pgen.1001157. PLoS Genet. 2010. PMID: 20976248 Free PMC article.
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.
Sen SK, Barb JJ, Cherukuri PF, Accame DS, Elkahloun AG, Singh LN, Lee-Lin SQ; NISC Comparative Sequencing Program; Kolodgie FD, Cheng Q, Zhao X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG. Sen SK, et al. Among authors: lee lin sq. BMC Genomics. 2014 Mar 14;15:198. doi: 10.1186/1471-2164-15-198. BMC Genomics. 2014. PMID: 24628908 Free PMC article.
Expanded skin virome in DOCK8-deficient patients.
Tirosh O, Conlan S, Deming C, Lee-Lin SQ, Huang X; NISC Comparative Sequencing Program; Su HC, Freeman AF, Segre JA, Kong HH. Tirosh O, et al. Among authors: lee lin sq. Nat Med. 2018 Dec;24(12):1815-1821. doi: 10.1038/s41591-018-0211-7. Epub 2018 Nov 5. Nat Med. 2018. PMID: 30397357 Free PMC article.
Investigation of a Cluster of Sphingomonas koreensis Infections.
Johnson RC, Deming C, Conlan S, Zellmer CJ, Michelin AV, Lee-Lin S, Thomas PJ, Park M, Weingarten RA, Less J, Dekker JP, Frank KM, Musser KA, McQuiston JR, Henderson DK, Lau AF, Palmore TN, Segre JA. Johnson RC, et al. N Engl J Med. 2018 Dec 27;379(26):2529-2539. doi: 10.1056/NEJMoa1803238. N Engl J Med. 2018. PMID: 30586509 Free PMC article.
23 results