Kim Oakhill

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Allan J. Richards, Annie McNinch, Howard Martin et al. · Human Mutation · 2010 · 146 citations · Full text

Medicine, Genetics, Ophthalmology +11

RET Is Constitutively Activated by Novel Tandem Mutations that Alter the Active Site Resulting in Multiple Endocrine Neoplasia Type 2B

Aaron Cranston, Cristiana Carniti, Kim Oakhill et al. · Cancer Research · 2006 · 83 citations

Medicine, Genetics, Oncology +17

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Allan J. Richards, Annie McNinch, Becky Treacy et al. · European Journal of Human Genetics · 2011 · 45 citations

Life Sciences, Genetics, Molecular Genetics +15