Sharon D. Whatley - Concepedia

Author

Sharon D. Whatley

University Hospital of Wales

Also Known As

S D Whatley, S. D. Whatley, S. Whatley, S.D. Whatley, Sharon D Whatley, Sharon D. Whatley, Sharon Whatley

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Wales University of Wales Cardiff University Hôpital Louis-Mourier Inserm

About

Sharon D. Whatley is an author at University Hospital of Wales specializing in medicine, genetics, and porphyrias.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	24	1.8K
2	Natural Sciences	12	12	1.1K
3	Allergy	2	2	111
4	Health Sciences	1	1	76
5	Public Health	1	1	36

Sharon D. Whatley

Publications

2.6K

Citations

H-Index

Page 1

	Year	Citations
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda Andrew G. Roberts, Sharon D. Whatley, Rhian Morgan, The Lancet BiologyNatural SciencesGeneticsMolecular GeneticsMicrobiology	1997	321
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, The American Journal of Human Genetics BiologyMedicineGeneticsPathogenesisIron Overload	2008	289
Early onset seizures and Rett-like features associated with mutations in CDKL5 Julie Evans, Hayley Archer, James Colley, European Journal of Human Genetics Early Onset SeizuresRett-like FeaturesGenetic DisorderGeneticsNeuroscience	2005	173
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales K. Haralambos, Sharon D. Whatley, Rhiannon Edwards, Atherosclerosis Family MedicineGenetic TestingFamilial HypercholesterolaemiaPedigree AnalysisHyperlipidemia	2015	125
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, The American Journal of Human Genetics BiologyGenetic DiversityMolecular Evolutionary EcologyMedicineGenetics	1999	109
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases Ruwani Katugampola, Michael N. Badminton, A.Y. Finlay, British Journal of Dermatology	2012	93
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome Franco Laccone, Ivonne Jünemann, Sharon D. Whatley, Human Mutation	2004	87
Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene Sharon D. Whatley, Nicola Mason, Jacqueline Woolf, Clinical Chemistry	2009	85
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases R. P. Katugampola, A. Anstey, A.Y. Finlay, British Journal of Dermatology	2012	79
Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda Jennifer J. Brady, Andrew Roberts, Rhian Morgan, Journal of Investigative Dermatology BiologyNatural SciencesGeneticsHemochromatosis GenesGenetic Mechanism	2000	77

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