Neil V. Whittock

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

Duncan B. Sparrow, Gavin Chapman, Merridee A. Wouters et al. · The American Journal of Human Genetics · 2005 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Neil V. Whittock, Duncan B. Sparrow, Merridee A. Wouters et al. · The American Journal of Human Genetics · 2004 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +2

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency

Neil V. Whittock, G H S Ashton, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 1999 · 151 citations · Full text

Medicine, Dermatology, Molecular Medicine +9

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Neil V. Whittock, Hong Wan, Robin A.J. Eady et al. · Journal of Investigative Dermatology · 2002 · 147 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Novel mutations in <i>DLL3</i>, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

Peter D. Turnpenny, Neil V. Whittock, Jaine Duncan et al. · Journal of Medical Genetics · 2003 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16