M. Shires

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Colin A. Johnson, D. Bonthron, F. Muntoni, 2011, Nature Genetics.

Null mutations in LTBP2 cause primary congenital glaucoma.

D. Mackey, Shaheen N. Khan, S. Riazuddin, 2009, American journal of human genetics.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

John Bradbury, Eamonn Sheridan, Rohit Shetty, 2013, American journal of human genetics.

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Colin A. Johnson, D. Bonthron, G. Taylor, 2011, American journal of human genetics.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.

S. Jacobson, D. Burt, K. Prescott, 2011, Investigative ophthalmology & visual science.

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations.

H. Wyandt, M. Shires, W. Wilson, 1983, American journal of medical genetics.

Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration.

M. McKibbin, C. Inglehearn, P. Hocking, 2014, Veterinary ophthalmology.