| 1 | KCNJ13, SVD
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| Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.
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| Zhang W, Zhang X, Wang H, Sharma AK, Edwards AO, Hughes BA.
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| Am J Physiol Cell Physiol 304(5):C440-9. doi: 10.1152/ajpcell.00363.2012. Epub 2012 Dec 19. 2013
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| 2 | KCNJ13, SVD
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| Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
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| Pattnaik BR, Tokarz S, Asuma MP, Schroeder T, Sharma A, Mitchell JC, Edwards AO, Pillers DA.
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| PLoS One 8(8):e71744. doi: 10.1371/journal.pone.0071744. eCollection 2013.
2013
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| 3 | KCNJ13, SVD
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| Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
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| Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO.
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| Am J Hum Genet 82(1):174-80. 2008
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| 4 | SVD
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| Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
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| Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO.
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| Invest Ophthalmol Vis Sci 45(12):4498-503. 2004
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| 5 | SVD
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| Snowflake vitreoretinal degeneration: follow-up of the original family.
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| Lee MM, Ritter R 3rd, Hirose T, Vu CD, Edwards AO.
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| Ophthalmology 110(12):2418-26. 2003
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