References
- Bourcy CFAD, Vlaminck ID, Kanbar JN, Wang J, Gawad C, Quake SR. 2014. A quantitative comparison of single-cell whole genome amplification methods. PloS One. 9(8):e105585.
- Chen YF, Jia HT, Chen ZH, Song JP, Liang Y, Pei JJ, Wu ZJ, Wang J, Qiu YL, Liu G, et al. 2015. Mutational spectrum of phenylketonuria in Jiangsu province. Eur J Pediatr. 174(10):1333–1338.
- Deleye L, Coninck DD, Christodoulou C, Sante T, Dheedene A, Heindryckx B, Abbeel EVD, Sutter PD, Menten B, Deforce D, et al. 2015. Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method. Sci Rep. 5:227–228.
- Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, et al. 1999. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 8(5):899–905.
- Foster PJ, Buhrmann R, Quigley HA, Johnson GJ. 2002. The definition and classification of glaucoma in prevalence surveys. Br J Ophthalmol. 86(2):238–242.
- Gong G, Kosoko-Lasaki S, Haynatzki G, Lynch HT, Lynch JA, Wilson MR. 2007. Inherited, familial and sporadic primary open-angle glaucoma. J Natl Med Assoc. 99(5):559–563.
- Hao Y, Chen D, Zhang Z, Zhou P, Cao Y, Wei Z, Xu X, Chen B, Zou W, Lv M, et al. 2018. Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform. Oncol Lett. 15(4):4296–4302.
- Huang L, Ma F, Chapman A, Lu S, Xie XS. 2015. Single-cell whole-genome amplification and sequencing: methodology and applications. Annu Rev Genomics Hum Genet. 16:79–102.
- Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS, Kim YY, Kim CS, Park CK, Ki CS, et al. 2011. Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Mol Vis. 17:2093–2101.
- Monemi S, Spaeth G, Dasilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A, et al. 2005. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 14(6):725–733.
- Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM. 2010. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 20(4):470–476.
- Renwick PJ, Trussler J, Ostad-Saffari E, Fassihi H, Black C, Braude P, Mackie Ogilvie C, Abbs S. 2006. Proof of principle and first cases using preimplantation genetic haplotyping–a paradigm shift for embryo diagnosis. Reprod Biomed Online. 13(1):110–119.
- Resnikoff S1, Pascolini D, Etya’ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP. 2004. Global data on visual impairment in the year 2002. Bull World Health Organ. 82(11):844–851.
- Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, et al. 2002. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 295(5557):1077–1079.
- Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, et al. 2000. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 130(2):165–177.
- Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, Fitzgerald JT, Crawford A, Hewitt AW, Goldberg I, Mills RA, et al. 2013. Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry. Ophthalmology. 120(6):1135–1143.
- Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, Nishimura D, Clark AF, Nystuen A, Nichols BE, et al. 1997. Identification of a gene that causes primary open angle glaucoma. Science. 275(5300):668–670.
- Tikunova EV, Churnosov MI. 2014. Genetic studies of primary open-angle glaucoma. Vestnik oftalmologii. 130(5):96–99.
- Zong C, Lu S, Chapman A, Xie X. 2012. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science. 338(6114):1622–1626.