Sophie Devery

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides et al. · The American Journal of Human Genetics · 2009 · 212 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Panagiotis I. Sergouniotis, Alice E. Davidson, Eva Lenassi et al. · Ophthalmology · 2011 · 119 citations

Medicine, Molecular Biology, Ophthalmology +16

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Jessica C. Gardner, Tom R. Webb, Naheed Kanuga et al. · The American Journal of Human Genetics · 2010 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the <i>GRM6</i> gene

Panagiotis I. Sergouniotis, Anthony G. Robson, Zheng Li et al. · Acta Ophthalmologica · 2011 · 41 citations

Life Sciences, Genetics, Ophthalmology +13