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Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.Nature|December 15, 2006
An SCN9A channelopathy causes congenital inability to experience painJames J Cox, Frank Reimann, Adeline K Nicholas, et al.Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.American Journal of Human Genetics|April 14, 2009
Null mutations in LTBP2 cause primary congenital glaucomaManir Ali, Martin McKibbin, Adam Booth, et al.Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.Pageof 2