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

Atherosclerosis, 2015-05, Vol.240 (1), p.190-196

2015

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

Annals of clinical biochemistry, 2013-05, Vol.50 (Pt 3), p.204-216

2013

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

British journal of dermatology (1951), 2016-12, Vol.175 (6), p.1346-1350

2016

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High-throughput sequence analysis reveals structural diversity and improved potency among RNA inhibitors of HIV reverse transcriptase

Nucleic acids research, 2013-02, Vol.41 (3), p.1873-1884

2013

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Molecular epidemiology of erythropoietic protoporphyria in the U.K

British journal of dermatology (1951), 2010-03, Vol.162 (3), p.642-646

2010

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A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress

Schizophrenia research, 2003-12, Vol.65 (1), p.33-38

2003

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

British journal of dermatology (1951), 2012-10, Vol.167 (4), p.888-900

2012

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

British journal of dermatology (1951), 2012-10, Vol.167 (4), p.901-913

2012

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

Journal of medical genetics, 2004-08, Vol.41 (8), p.e105-e105

2004

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X-linked dominant protoporphyria: a new porphyria

Clinical and experimental dermatology, 2014-01, Vol.39 (1), p.35-37

2014

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(1) Genetic testing for familial hypercholesterolaemia in wales: identification of recurrent and novel variants

Atherosclerosis, 2012-08, Vol.223 (2), p.528-528

2012

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

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Potent Inhibition of HIV-1 Reverse Transcriptase and Replication by Nonpseudoknot, “UCAA-motif” RNA Aptamers

Molecular therapy. Nucleic acids, 2013-02, Vol.2 (2), p.e71-e71, Article e71

2013

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

The Lancet (British edition), 1997-02, Vol.349 (9048), p.321-323

1997

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

British journal of dermatology (1951), 2007-11, Vol.157 (5), p.1030-1031

2007

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Genetic testing of familial hypercholesterolaemia at BGL– a four year audit

Atherosclerosis, 2013-12, Vol.231 (2), p.e2-e2

2013

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Genotyping of patients with familial hypercholesterolaemia from lipid clinics in Wales

Atherosclerosis, 2011-10, Vol.218 (2), p.e2-e2

2011

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The impact of routine next generation sequencing testing for familial hypercholesterolaemia – 5 months service experience

Atherosclerosis, 2014-10, Vol.236 (2), p.e304-e304

2014

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Behavioral Health Information Technology: From Chaos To Clarity

Health Affairs, 2016-06, Vol.35 (6), p.1106-1113

2016

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Biochemical, inhibition and inhibitor resistance studies of xenotropic murine leukemia virus-related virus reverse transcriptase

Nucleic acids research, 2012-01, Vol.40 (1), p.345-359

2012

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Implementation of a comprehensive gene screening test for familial hypercholesterolaemia using next generation sequencing

Atherosclerosis, 2013-12, Vol.231 (2), p.e3-e3

2013

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(9) Evaluation of genotype scoring criteria for familial hypercholesterolaemia (FH) in wales

Atherosclerosis, 2012-08, Vol.223 (2), p.530-530

2012

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(3) Development of a single comprehensive gene screening test for familial hypercholesterolaemia using next generation sequencing

Atherosclerosis, 2012-08, Vol.223 (2), p.528-528

2012

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(27) DNA sequence variant c.932A > C, p.Lys311Thr in LDLR gene in familial hypercholesterolaemia (FH): Observations from family studies

Atherosclerosis, 2012-08, Vol.223 (2), p.535-535

2012

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Germline mosaicism for a MECP2 mutation in a man with two Rett daughters

Clinical genetics, 2006-10, Vol.70 (4), p.336-338

2006

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

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

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

High-throughput sequence analysis reveals structural diversity and improved potency among RNA inhibitors of HIV reverse transcriptase

Molecular epidemiology of erythropoietic protoporphyria in the U.K

A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress

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

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

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

X-linked dominant protoporphyria: a new porphyria

(1) Genetic testing for familial hypercholesterolaemia in wales: identification of recurrent and novel variants

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

Potent Inhibition of HIV-1 Reverse Transcriptase and Replication by Nonpseudoknot, “UCAA-motif” RNA Aptamers

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

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

Genetic testing of familial hypercholesterolaemia at BGL– a four year audit

Genotyping of patients with familial hypercholesterolaemia from lipid clinics in Wales

The impact of routine next generation sequencing testing for familial hypercholesterolaemia – 5 months service experience

Behavioral Health Information Technology: From Chaos To Clarity

Biochemical, inhibition and inhibitor resistance studies of xenotropic murine leukemia virus-related virus reverse transcriptase

Implementation of a comprehensive gene screening test for familial hypercholesterolaemia using next generation sequencing

(9) Evaluation of genotype scoring criteria for familial hypercholesterolaemia (FH) in wales

(3) Development of a single comprehensive gene screening test for familial hypercholesterolaemia using next generation sequencing

(27) DNA sequence variant c.932A > C, p.Lys311Thr in LDLR gene in familial hypercholesterolaemia (FH): Observations from family studies

Germline mosaicism for a MECP2 mutation in a man with two Rett daughters

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