Sharon D. Whatley

Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

Andrew G. Roberts, Sharon D. Whatley, Rhian Morgan et al. · The Lancet · 1997 · 321 citations

Biology, Natural Sciences, Genetics +7

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 289 citations · Full text

Biology, Medicine, Genetics +11

Early onset seizures and Rett-like features associated with mutations in CDKL5

Julie Evans, Hayley Archer, James Colley et al. · European Journal of Human Genetics · 2005 · 173 citations · Full text

Early Onset Seizures, Rett-like Features, Genetic Disorder +7

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales

K. Haralambos, Sharon D. Whatley, Rhiannon Edwards et al. · Atherosclerosis · 2015 · 125 citations

Family Medicine, Genetic Testing, Familial Hypercholesterolaemia +6

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

Sharon D. Whatley, Hervé Puy, Rhian Morgan et al. · The American Journal of Human Genetics · 1999 · 109 citations · Full text

Biology, Genetic Diversity, Molecular Evolutionary Ecology +10