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Exome Sequence Analysis of 14 Families With High Myopia.
Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):1982-1990. doi: 10.1167/iovs.16-20883.
Invest Ophthalmol Vis Sci. 2017.
PMID: 28384719
Free PMC article.
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Jin ZB, Wu J, Huang XF, Feng CY, Cai XB, Mao JY, Xiang L, Wu KC, Xiao X, Kloss BA, Li Z, Liu Z, Huang S, Shen M, Cheng FF, Cheng XW, Zheng ZL, Chen X, Zhuang W, Zhang Q, Young TL, Xie T, Lu F, Qu J.
Jin ZB, et al. Among authors: kloss ba.
Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):4219-4224. doi: 10.1073/pnas.1615970114. Epub 2017 Apr 3.
Proc Natl Acad Sci U S A. 2017.
PMID: 28373534
Free PMC article.
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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL.
Souma T, et al.
J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6.
J Clin Invest. 2016.
PMID: 27270174
Free PMC article.
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Analysis of FOXD3 sequence variation in human ocular disease.
Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV.
Kloss BA, et al.
Mol Vis. 2012;18:1740-9. Epub 2012 Jun 27.
Mol Vis. 2012.
PMID: 22815627
Free PMC article.
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