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Annals of Clinical Biochemistry|April 23, 2013
Role of genetic testing in the management of patients with inherited porphyria and their familiesS D Whatley, M N BadmintonLancet (London, England)|October 14, 1995
De-novo mutation and sporadic presentation of acute intermittent porphyriaS D Whatley, A G Roberts, G H ElderHuman Genetics|August 24, 1999
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutationsS D Whatley, J R Woolf, G H ElderThe British Journal of Dermatology|April 19, 2016
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutationP Aguilera, C Badenas, S D Whatley, et al.Clinical Genetics|September 13, 2006
Germline mosaicism for a MECP2 mutation in a man with two Rett daughtersJ C Evans, H L Archer, S D Whatley, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|April 30, 2003
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2S A Lynch, S D Whatley, V Ramesh, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large familyK R Allen, S D Whatley, T J Degg, et al.Clinical and Experimental Dermatology|October 18, 2013
X-linked dominant protoporphyria: a new porphyriaM J Seager, S D Whatley, A V Anstey, et al.Lancet (London, England)|February 1, 1997
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tardaA G Roberts, S D Whatley, R R Morgan, et al.British Journal of Cancer|October 29, 1998
Quantitative studies of the kinetics of 5-aminolaevulinic acid-induced fluorescence in bladder transitional cell carcinomaS N Datta, C S Loh, A J MacRobert, et al.Pageof 3