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Page 1
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. Among authors: young tl. 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.
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL. Tompson SW, et al. Among authors: young tl. Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50. doi: 10.1080/13816810.2016.1275018. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095098 Free PMC article.
Exome Sequence Analysis of 14 Families With High Myopia.
Kloss BA, Tompson SW, Whisenhunt KN, Quow KL, Huang SJ, Pavelec DM, Rosenberg T, Young TL. Kloss BA, et al. Among authors: young tl. 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.
Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Tanna CE, Hewitt AW, Mackey DA, Bradfield YS, Souzeau E, Javadiyan S, Wiggs JL, Pasutto F, Liu X, John SW, Craig JE, Jin J, Young TL, Quaggin SE. Thomson BR, et al. Among authors: young tl. J Clin Invest. 2017 Dec 1;127(12):4421-4436. doi: 10.1172/JCI95545. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106382 Free PMC article.
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF; CREAM Consortium; 23andMe Research Team; UK Biobank Eye and Vision Consortium; Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammon… See abstract for full author list ➔ Tedja MS, et al. Among authors: young tl. Nat Genet. 2018 Jun;50(6):834-848. doi: 10.1038/s41588-018-0127-7. Epub 2018 May 28. Nat Genet. 2018. PMID: 29808027 Free PMC article.
In-utero epigenetic factors are associated with early-onset myopia in young children.
Seow WJ, Ngo CS, Pan H, Barathi VA, Tompson SW, Whisenhunt KN, Vithana E, Chong YS, Juo SH, Hysi P, Young TL, Karnani N, Saw SM. Seow WJ, et al. Among authors: young tl. PLoS One. 2019 May 17;14(5):e0214791. doi: 10.1371/journal.pone.0214791. eCollection 2019. PLoS One. 2019. PMID: 31100065 Free PMC article.
Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.
Wong YL, Hysi P, Cheung G, Tedja M, Hoang QV, Tompson SWJ, Whisenhunt KN, Verhoeven V, Zhao W, Hess M, Wong CW, Kifley A, Hosoda Y, Haarman AEG, Hopf S, Laspas P, Sensaki S, Sim X, Miyake M, Tsujikawa A, Lamoureux E, Ohno-Matsui K, Nickels S, Mitchell P, Wong TY, Wang JJ, Hammond CJ, Barathi VA, Cheng CY, Yamashiro K, Young TL, Klaver CCW, Saw SM; Consortium of Refractive Error, Myopia (CREAM). Wong YL, et al. Among authors: young tl. PLoS One. 2019 Aug 15;14(8):e0220143. doi: 10.1371/journal.pone.0220143. eCollection 2019. PLoS One. 2019. PMID: 31415580 Free PMC article.
348 results