http://orcid.org/0000-0002-4185-3267
References
- Chandra A, Charteris D. Molecular pathogenesis and management strategies of ectopia lentis. Eye (Lond) 2014;28:162–168.
- Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337–339.
- Chandra A, Aragon-Martin JA, Hughes K, et al. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci 2012;53:4889–4896.
- Aragon-Martin JA, Ahnood D, Charteris DG, et al. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat 2010;31:E1622–E1631.
- De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62:417–426.
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476–485.
- Hamod A, Moodie D, Clark B, Traboulsi EI. Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome. Ophthalmic Genet 2003;24:35–39.
- Lonnqvist L, Child A, Kainulainen K, et al. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 1994;19:573–576.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
- Genomes Project C, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature 2015;526:68–74.
- Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248–249.
- Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11:361–362.
- Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073–1081.
- Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863–874.
- Christensen AE, Fiskerstrand T, Knappskog PM, et al. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci 2010;51:6369–6373.
- Neuhann TM, Artelt J, Neuhann TF, et al. A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. Invest Ophthalmol Vis Sci; 2011;52:695–700.
- Chandra A, Aragon-Martin JA, Sharif S, et al. Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. Ophthalmic Genet 2013;34:78–82.
- Gabriel LA, Wang LW, Bader H, et al. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Invest Ophthalmol Vis Sci 2012;53:461–469.
- Neuhann TM, Stegerer A, Riess A, et al. ADAMTSL4-associated isolated ectopia lentis: further patients, novel mutations and a detailed phenotype description. Am J Med Genet A 2015;167A:2376–2381.
- Friedlaender JS, Friedlaender FR, Reed FA, et al. The genetic structure of Pacific Islanders. PLoS Genet 2008;4:e19.
- Kayser M, Lao O, Saar K, et al. Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet 2008;82:194–198.
- Eccles DA, Macartney-Coxson D, Chambers GK, Lea RA. A unique demographic history exists for the MAO-A gene in Polynesians. J Hum Genet 2012;57:294–300.
- Heur M, Costin B, Crowe S, et al. The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome. Am J Ophthalmol 2008;145:997–1001.