Kelly Springell

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

Channelopathies, Pain Syndrome, Pain Medicine +4

ASPM is a major determinant of cerebral cortical size

Jacquelyn Bond, Emma Roberts, Ganeshwaran H. Mochida et al. · Nature Genetics · 2002 · 565 citations

Neurophysiology, Neuroanatomy, Neurological Function +8

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Jacquelyn Bond, Emma Roberts, Kelly Springell et al. · Nature Genetics · 2005 · 562 citations

Molecular Neuroscience, Neurophysiology, Neuroanatomy +11

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 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