Kelly Springell
St James's University Hospital(GB)
Publications by Year
Research Areas
Microtubule and mitosis dynamics, Retinal Development and Disorders, Genetics and Neurodevelopmental Disorders, Retinal Diseases and Treatments, Advanced biosensing and bioanalysis techniques
Most-Cited Works
- → An SCN9A channelopathy causes congenital inability to experience pain(2006)1,562 cited
- → ASPM is a major determinant of cerebral cortical size(2002)565 cited
- → A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size(2005)563 cited
- → Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease(2006)265 cited
- → Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis(2007)200 cited
- → Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size(2003)180 cited
- → Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia(2009)165 cited
- → The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis(2011)162 cited
- → Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome(2006)158 cited
- → The molecular landscape of ASPM mutations in primary microcephaly(2008)104 cited