N. Torben Bech‐Hansen

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

N. Torben Bech‐Hansen, Margaret J. Naylor, Tracy A. Maybaum et al. · Nature Genetics · 2000 · 349 citations

Ocular Disease, Developmental Biology, Ophthalmology +6

Pleiotropic phenotype of colchicine‐resistant CHO cells: Cross‐resistance and collateral sensitivity

N. Torben Bech‐Hansen, J. E. Till, Victor Ling · Journal of Cellular Physiology · 1976 · 313 citations

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina

Fiona C. Mansergh, Noelle C. Orton, John P. Vessey et al. · Human Molecular Genetics · 2005 · 265 citations

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Samuel G. Jacobson, Artur V. Cideciyan, Tomás S. Alemán et al. · Human Molecular Genetics · 2008 · 115 citations · Full text

Ocular Disease, Developmental Biology, Photoreceptor Cell +15

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

Kym M. Boycott, Tracy A. Maybaum, MARGARET NAYLOR et al. · Human Genetics · 2001 · 101 citations

Mendelian Disorder, Ophthalmology, Cacna1f Mutations +5