Moin Mohamed

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Eranga N. Vithana, Patricio E. Morgan, Periasamy Sundaresan et al. · Nature Genetics · 2006 · 292 citations

Genetic Disorder, Genetics, Physiology +5

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

C. Geoffrey Woods, James J. Cox, Kelly Springell et al. · The American Journal of Human Genetics · 2006 · 264 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Robert K. Koenekoop, Hui Wang, Jacek Majewski et al. · Nature Genetics · 2012 · 201 citations · Full text

Ocular Disease, Retina, Mendelian Disorder +8

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Moin Mohamed et al. · Nature Genetics · 2007 · 199 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Ethnic Variations in the Prevalence of Diabetic Retinopathy in People with Diabetes Attending Screening in the United Kingdom (DRIVE UK)

Sobha Sivaprasad, Bhaskar Gupta, Martin Gulliford et al. · PLoS ONE · 2012 · 143 citations · Full text