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Number of items: 23.

McClatchey, Martin A., du Toit, Zachary D., Vaughan, Rhys, Whatley, Sharon D., Martins, Sara, Hegde, Shivaram, Naude, Johann te Water, Thomas, David H., Griffiths, David F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63 (9) , 103972. 10.1016/j.ejmg.2020.103972
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Whatley, S. D., Mason, N. G., Rhodes, J. M., Stewart, M. F., Reed, P., Crowley, V., Darby, C. M. and Badminton, M. N. 2013. Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria. Clinical Chemistry 59 (7) , pp. 1123-1125. 10.1373/clinchem.2012.199117

Whatley, Sharon and Badminton, Michael 2013. Role of genetic testing in the management of patients with inherited porphyria and their families. Annals of Clinical Biochemistry 50 (3) , pp. 204-216. 10.1177/0004563212473278

Katugampola, Ruwani P., Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Finlay, Andrew Yule ORCID: https://orcid.org/0000-0003-2143-1646, Whatley, Sharon D., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Mason, Nicola G., Deybach, J. C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Badminton, Michael Norman 2012. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. British Journal Of Dermatology 167 (4) , pp. 888-900. 10.1111/j.1365-2133.2012.11154.x

Katugampola, Ruwani P., Badminton, Michael Norman, Finlay, Andrew Yule ORCID: https://orcid.org/0000-0003-2143-1646, Whatley, Sharon D., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Mason, Nicola G., Deybach, J. C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 2012. Congenital erythropoietic porphyria: A single-observer clinical study of 29 cases. British Journal Of Dermatology 167 (4) , pp. 901-913. 10.1111/j.1365-2133.2012.11160.x

Ali, Faraz, Ingram, John R. ORCID: https://orcid.org/0000-0002-5257-1142, Whatley, Sharon, Badminton, Michael Norman and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 2011. X-linked dominant protoporphyria due to a novel mutation in ALAS2: a case report [Abstract]. British Journal of Dermatology 164 (5) , p. 1167. 10.1111/j.1365-2133.2011.10357.x

Sarkany, Robert P. E., Ibbotson, Sally H., Whatley, Sharon D., Lawrence, Clifford M., Gover, Pamela, Mufti, Ghulam J., Murphy, Gillian M., Masters, Gillian S., Badminton, Michael Norman and Elder, George H. 2011. Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria [Letter]. Journal of Investigative Dermatology 131 (5) , pp. 1172-1175. 10.1038/jid.2011.5

Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George H. and Badminton, Michael Norman 2010. Molecular epidemiology of erythropoietic protoporphyria in the U.K. British Journal of Dermatology 162 (3) , pp. 642-646. 10.1111/j.1365-2133.2010.09631.x

Whatley, Sharon D., Mason, Nicola G., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Elder, George H. and Badminton, Michael Norman 2009. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clinical Chemistry 55 (7) , pp. 1406-1414. 10.1373/clinchem.2008.122564

Holme, S. Alexander, Whatley, Sharon D., Roberts, Andrew Glyn, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George H., Ead, Russell D., Stewart, M. Felicity, Farr, Peter M., Lewis, Helen M., Davies, Nicholas, White, Marion I., Ackroyd, R. Simon and Badminton, Michael Norman 2009. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. Journal of Investigative Dermatology 129 (3) , pp. 599-605. 10.1038/jid.2008.272

Holme, S.Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Whatley, Sharon D., Elder, George H. and Badminton, Michael Norman 2009. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma - reply [Letter]. British Journal of Dermatology 161 (4) , pp. 966-967. 10.1111/j.1365-2133.2009.09407.x

Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael Norman, Elder, George H., Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles and Puy, Hervé 2008. C-Terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. American Journal of Human Genetics 83 (3) , pp. 408-414. 10.1016/j.ajhg.2008.08.003

Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alex Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George Hill and Badminton, Michael Norman 2007. Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. Journal of Investigative Dermatology Advanc , pp. 1-5. 10.1038/sj.jid.5700924

Holme, S. Alexander, Thomas, Charles L., Whatley, Sharon D., Bentley, Douglas P., Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 and Badminton, Michael Norman 2007. Symptomatic response of erythropoietic protoporphyria to iron supplementation [Letter]. Journal of the American Academy of Dermatology 56 (6) , pp. 1070-1072. 10.1016/j.jaad.2006.11.030

Taibjee, S. M., Stevenson, O. E., Abdullah, A., Tan, C. Y., Darbyshire, P., Moss, C., Goodyear, H., Heagerty, A., Whatley, Sharon D. and Badminton, Michael Norman 2007. Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma. British Journal of Dermatology 156 (3) , pp. 567-571. 10.1111/j.1365-2133.2006.07699.x

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Ravine, D., Evans, Julie Claire and Whatley, Sharon D. 2006. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Bharati, A., Badminton, Michael Norman, Whatley, Sharon D., O'Brien, D. V. and Bell, H. K. 2006. Late-onset erythropoietic protoporphyria in association with haematological malignancy. Clinical and Experimental Dermatology 31 (5) , pp. 668-670. 10.1111/j.1365-2230.2006.02179.x

Wood, Lisa H., Whatley, Sharon D., McKenna, Kevin and Badminton, Michael Norman 2006. Exonic deletions as a cause of erythropoietic protoporphyria. Annals of Clinical Biochemistry 43 (3) , pp. 229-232. 10.1258/000456306776865160

Evans, Julie C., Archer, Hayley Louise, Colley, James, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E., Wright, Michael J., Pilz, Daniela, Lazarou, Lazarus, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Butler, Rachel, Whatley, Sharon D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10) , pp. 1113-1120. 10.1038/sj.ejhg.5201451

Archer, Hayley Louise, Whatley, Sharon D., Evans, Julie C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lazarou, L., Butler, R., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Pilz, Daniela, Laccone, F. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Whatley, Sharon D., Mason, Nicola G., Khan, M., Zamiri, M., Badminton, Michael Norman, Missaoui, W. N., Dailey, T. A., Dailey, H. A., Douglas, W. S., Wainwright, N. J. and Elder, George H. 2004. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. Journal of Medical Genetics 41 (8) , e105. 10.1136/jmg.2003.016121

Gill, Hefin, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Maynard, Julie Helen, Fleming, Nick, Whatley, Sharon D., Cranston, T, Thompson, E M, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40 (5) , pp. 380-384. 10.1136/jmg.40.5.380

Clark, Z. E., Bowen, Derrick John, Whatley, Sharon D., Bellamy, M. F., Collins, Peter William ORCID: https://orcid.org/0000-0002-6410-1324 and McDowell, Ian Frederick 1998. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology [Technical Brief]. Clinical Chemistry 44 (11) , pp. 2360-2362.

This list was generated on Fri Apr 18 08:34:25 2025 BST.


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