S. Whatley

发表

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

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

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

I. Mcdowell, R. Gingell, P. Lansberg, 2015, Atherosclerosis.

Heparin Selectively Affects the Quantification of MicroRNAs in Human Blood Samples

M. F. Stewart, M. Badminton, J. Rhodes, 2013 .

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.

J. Deybach, H. Puy, R. Morgan, 1999, American journal of human genetics.

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

M. Worwood, R. Morgan, G. Elder, 1997, The Lancet.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

P. Huppke, D. Ravine, R. Morgan, 2004 .

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

M. Worwood, R. Morgan, G. Elder, 2000, The Journal of investigative dermatology.

The lymphoblast beta-adrenergic receptor in bipolar depressed patients: characterization and down-regulation.

P. McGuffin, D. Baldwin, M. Sargeant, 1993, Journal of affective disorders.

Role of genetic testing in the management of patients with inherited porphyria and their families

M. Badminton, S. Whatley, 2013, Annals of clinical biochemistry.

The frequency of hemochromatosis‐associated alleles is increased in British patients with sporadic porphyria cutanea tarda

M. Worwood, Jennifer J. Pointon, G. Elder, 1997, Hepatology.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

ferrochelatase gene in hematopoietic cells secondary to late-onset protoporphyria caused by deletion of a Photosensitivity and acute liver injury in myeloproliferative disorder

Geraint T. Williams, M. Badminton, G. Elder, 2013 .

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.

Geraint T. Williams, M. Badminton, G. Elder, 2006, Blood.

The Porphyrias and Other Disorders of Porphyrin Metabolism

M. Badminton, G. Elder, A. Deacon, 2012 .

Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria.

G. Mufti, S. Ibbotson, G. Murphy, 2011, The Journal of investigative dermatology.

Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members

D. Goudie, S. Ibbotson, G. Elder, 2007, The British journal of dermatology.

Late‐onset erythropoietic protoporphyria in association with haematological malignancy

M. Badminton, S. Whatley, H. K. Bell, 2006, Clinical and experimental dermatology.

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

M. Badminton, G. Elder, H. Dailey, 2004, Journal of Medical Genetics.

Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.

G. Elder, C. Lovell, P. Thompson, 2001, The Journal of investigative dermatology.

The lymphoblast beta-adrenergic receptor in bipolar depressed patients: effect of chronic incubation with lithium chloride.

P. McGuffin, M. Sargeant, R. Marchbanks, 1994, Journal of affective disorders.

Congenital erythropoietic porphyria: a single‐observer clinical study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Best practice guidelines on first-line laboratory testing for porphyria

M. F. Stewart, J. Marsden, M. Badminton, 2017, Annals of clinical biochemistry.

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

R. Hastings, T. Charman, A. Clarke, 2005, European Journal of Human Genetics.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Allogeneic bone marrow transplantation in a 7‐year‐old girl with congenital erythropoietic porphyria: a treatment dilemma

M. Badminton, C. Y. Tan, C. Moss, 2007, The British journal of dermatology.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

H. Bonkovsky, S. Sandberg, R. Desnick, 2019, Genetics in Medicine.

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

G. Elder, A. Roberts, C. Garrett, 2000, Human Genetics.

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

J. Deybach, H. Puy, G. Elder, 2001, American journal of human genetics.

Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.

R. Newcombe, M. Badminton, G. Elder, 2009, Clinical chemistry.

Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.

A. Clarke, A. Fry, S. Martins, 2020, European journal of medical genetics.

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Joanne, J. Marsden, G. Mieli-Vergani, 2008, American journal of human genetics.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

P. Huppke, D. Ravine, R. Morgan, 2004, Human mutation.

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

A. Clarke, H. Archer, A. Kerr, 2005, European Journal of Human Genetics.

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 mutations

G. Elder, S. Whatley, J. Woolf, 1999, Human Genetics.

Late‐onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

C. Badenas, P. Aguilera, J. To-Figueras, 2016, The British journal of dermatology.

Molecular characterization of homozygous variegate porphyria.

J. Deybach, H. Puy, P. Martásek, 1998, Human molecular genetics.

Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern

G. Elder, A. Roberts, P. C. Sharpe, 2004, The British journal of dermatology.

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

M. F. Stewart, M. Badminton, G. Elder, 2009, The Journal of investigative dermatology.

X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia

D. Schuppan, B. Gruhn, U. Stölzel, 2016, British journal of haematology.

Symptomatic response of erythropoietic protoporphyria to iron supplementation.

D. P. Bentley, M. Badminton, A. Anstey, 2007, Journal of the American Academy of Dermatology.

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

M. Badminton, G. Elder, A. Anstey, 2010, The British journal of dermatology.

Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.

M. Badminton, G. Elder, A. Anstey, 2007, The Journal of investigative dermatology.

Exonic deletions as a cause of erythropoietic protoporphyria

M. Badminton, Lisa Wood, K. McKenna, 2006, Annals of clinical biochemistry.

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma – reply

G. Elder, S. A. Holme, S. Whatley, 2009, The British journal of dermatology.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

P. Harrison, G. Elder, A. Roberts, 1996, Journal of medical genetics.

Failure to find linkage between schizophrenia and genetic markers on chromosome 21.

D. Collier, M. Gill, P. McGuffin, 1993, American journal of medical genetics.

Bristol Cup Posters

A. Finlay, C. Ged, H. Puy, 2009 .

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

D. Ravine, S. Sinha, S. Lynch, 2003, Archives of disease in childhood. Fetal and neonatal edition.

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

F. Hanefeld, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

Quantitative studies of the kinetics of 5-aminolaevulinic acid-induced fluorescence in bladder transitional cell carcinoma.

A. J. MacRobert, S. Datta, A. MacRobert, 1998, British Journal of Cancer.

The molecular genetics of erythropoietic protoporphyria.

J. Deybach, L. Gouya, H. Puy, 2009, Cellular and molecular biology.

X‐linked dominant protoporphyria: a new porphyria

A. Anstey, M. Seager, S. Whatley, 2014, Clincal and Experimental Dermatology.

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

G. Elder, D. Llewellyn, S. Whatley, 1993, Human molecular genetics.

Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology.

I. Mcdowell, P. Collins, D. Bowen, 1998, Clinical chemistry.

Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family

J. Barth, S. Whatley, K. Allen, 2005, Journal of Inherited Metabolic Disease.

De-novo mutation and sporadic presentation of acute intermittent porphyria

G. Elder, A. Roberts, S. Whatley, 1995, The Lancet.

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

M. Owen, G. Elder, A. Roberts, 1995, Human molecular genetics.

Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.

M. F. Stewart, M. Badminton, J. Rhodes, 2013, Clinical chemistry.

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

I. Mcdowell, R. Gingell, P. Lansberg, 2015, Atherosclerosis.

Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.

M. Badminton, V. Crowley, P. Reed, 2013, Clinical chemistry.