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Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
Huang H, Chen Y, Chen H, Ma Y, Chiang PW, Zhong J, Liu X, Asan, Wu J, Su Y, Li X, Deng J, Huang Y, Zhang X, Li Y, Fan N, Wang Y, Tang L, Shen J, Chen M, Zhang X, Te D, Banerjee S, Liu H, Qi M, Yi X. Huang H, et al. Among authors: chiang pw. PLoS One. 2018 Apr 11;13(4):e0185237. doi: 10.1371/journal.pone.0185237. eCollection 2018. PLoS One. 2018. PMID: 29641573 Free PMC article.
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H, Wang Y, Chen H, Chen Y, Wu J, Chiang PW, Fan N, Su Y, Deng J, Chen D, Li Y, Zhang X, Zhang M, Liang S, Banerjee S, Qi M, Liu X. Huang H, et al. Among authors: chiang pw. Oncotarget. 2017 May 23;8(21):35176-35183. doi: 10.18632/oncotarget.17052. Oncotarget. 2017. PMID: 28456785 Free PMC article.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M. Chiang PW, et al. Nat Genet. 2012 Sep;44(9):972-4. doi: 10.1038/ng.2370. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842231
Relationship between foveal cone specialization and pit morphology in albinism.
Wilk MA, McAllister JT, Cooper RF, Dubis AM, Patitucci TN, Summerfelt P, Anderson JL, Stepien KE, Costakos DM, Connor TB Jr, Wirostko WJ, Chiang PW, Dubra A, Curcio CA, Brilliant MH, Summers CG, Carroll J. Wilk MA, et al. Among authors: chiang pw. Invest Ophthalmol Vis Sci. 2014 May 20;55(7):4186-98. doi: 10.1167/iovs.13-13217. Invest Ophthalmol Vis Sci. 2014. PMID: 24845642 Free PMC article.
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Gale MJ, Titus HE, Harman GA, Alabduljalil T, Dennis A, Wilson JL, Koeller DM, Finanger E, Blasco PA, Chiang PW, Karr DJ, Yang P. Gale MJ, et al. Among authors: chiang pw. Am J Ophthalmol Case Rep. 2018 Mar 13;10:244-248. doi: 10.1016/j.ajoc.2018.03.015. eCollection 2018 Jun. Am J Ophthalmol Case Rep. 2018. PMID: 29780943 Free PMC article.
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.
Alabduljalil T, Patel RC, Alqahtani AA, Gao SS, Gale MJ, Zhang M, Jia Y, Huang D, Chiang PW, Chen R, Wang J, Weleber RG, Pennesi ME, Yang P. Alabduljalil T, et al. Among authors: chiang pw. Am J Ophthalmol. 2019 Jun;202:79-90. doi: 10.1016/j.ajo.2019.02.007. Epub 2019 Feb 14. Am J Ophthalmol. 2019. PMID: 30771335 Free PMC article.
83 results