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Folic acid use and major congenital malformations in offspring of women with epilepsy: a prospective study from the UK Epilepsy and Pregnancy Register

Journal of neurology, neurosurgery and psychiatry, 2009-05, Vol.80 (5), p.506-511

2009

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The long-term safety and efficacy of bilateral transplantation of human fetal striatal tissue in patients with mild to moderate Huntington's disease

Journal of neurology, neurosurgery and psychiatry, 2013-06, Vol.84 (6), p.657-665

2013

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Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

Journal of medical genetics, 2006-04, Vol.43 (4), p.e15-e15

2006

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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68

2007

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Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

Gut, 1999-11, Vol.45 (5), p.649-652

1999

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Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)

Journal of medical genetics, 1996-09, Vol.33 (9), p.779-782

1996

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Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

Thorax, 1998-02, Vol.53 (2), p.151-152

1998

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Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

Journal of medical genetics, 1997-12, Vol.34 (12), p.982-985

1997

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Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

Journal of neurology, neurosurgery and psychiatry, 2000-04, Vol.68 (4), p.504-507

2000

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The epidemiology of Huntington's disease in Northern Ireland

Journal of medical genetics, 1995-07, Vol.32 (7), p.524-530

1995

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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Archives of disease in childhood, 2011-11, Vol.96 (11), p.1020-1025

2011

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Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset

Journal of medical genetics, 1996-06, Vol.33 (6), p.504-506

1996

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Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea

Journal of medical genetics, 1993-12, Vol.30 (12), p.1012-1013

1993

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Confidential inquiry into families with two siblings with cystic fibrosis

Archives of disease in childhood, 1998-06, Vol.78 (6), p.578-578

1998

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Age at onset in Huntington's disease and methylation at D4S95

Journal of medical genetics, 1993-03, Vol.30 (3), p.185-188

1993

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Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland

Journal of medical genetics, 1993-12, Vol.30 (12), p.1018-1019

1993

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Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence

BMJ case reports, 2011, Vol.2011 (feb17 1), p.bcr1020103395-bcr1020103395

2011

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Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase

Journal of medical genetics, 1990-02, Vol.27 (2), p.135-136

1990

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DNA storage and duplicate sampling: lessons learnt from testing for Huntington's disease

Journal of medical genetics, 1993-12, Vol.30 (12), p.1042-1042

1993

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Unusual patellar tendon injury in an adolescent runner with generalised ligamentous laxity

British journal of sports medicine, 1996-06, Vol.30 (2), p.178-180

1996

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Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype

Journal of medical genetics, 2009-12, Vol.46 (12), p.840-846

2009

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Randomised controlled trial of specialist nurse intervention in heart failure

BMJ, 2001-09, Vol.323 (7315), p.715-718

International edition, 2001

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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Journal of medical genetics, 2018-06, Vol.55 (6), p.384-394

2018

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Clopidogrel reduces migraine with aura after transcatheter closure of persistent foramen ovale and atrial septal defects

Heart (British Cardiac Society), 2005-09, Vol.91 (9), p.1173-1175

2005

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Inheritance of persistent foramen ovale and atrial septal defects and the relation to familial migraine with aura

Heart (British Cardiac Society), 2004-11, Vol.90 (11), p.1315-1320

2004

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Folic acid use and major congenital malformations in offspring of women with epilepsy: a prospective study from the UK Epilepsy and Pregnancy Register

The long-term safety and efficacy of bilateral transplantation of human fetal striatal tissue in patients with mild to moderate Huntington's disease

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Familial hiatal hernia in a large five generation family confirming true autosomal dominant inheritance

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

The epidemiology of Huntington's disease in Northern Ireland

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea

Confidential inquiry into families with two siblings with cystic fibrosis

Age at onset in Huntington's disease and methylation at D4S95

Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland

Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase

DNA storage and duplicate sampling: lessons learnt from testing for Huntington's disease

Unusual patellar tendon injury in an adolescent runner with generalised ligamentous laxity

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype

Randomised controlled trial of specialist nurse intervention in heart failure

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Clopidogrel reduces migraine with aura after transcatheter closure of persistent foramen ovale and atrial septal defects

Inheritance of persistent foramen ovale and atrial septal defects and the relation to familial migraine with aura

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