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Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: lee w. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Choroidal and retinal thickening in severe preeclampsia.
Garg A, Wapner RJ, Ananth CV, Dale E, Tsang SH, Lee W, Allikmets R, Bearelly S. Garg A, et al. Among authors: lee w. Invest Ophthalmol Vis Sci. 2014 Jul 29;55(9):5723-9. doi: 10.1167/iovs.14-14143. Invest Ophthalmol Vis Sci. 2014. PMID: 25074772 Free PMC article.
The external limiting membrane in early-onset Stargardt disease.
Lee W, Nõupuu K, Oll M, Duncker T, Burke T, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R. Lee W, et al. Invest Ophthalmol Vis Sci. 2014 Aug 19;55(10):6139-49. doi: 10.1167/iovs.14-15126. Invest Ophthalmol Vis Sci. 2014. PMID: 25139735 Free PMC article.
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