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Using the Findings of a National Survey to Inform the Work of England's Genomics Education Programme

Frontiers in genetics, 2019-12, Vol.10, p.1265

2019

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3106-3118

2013

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Welcome to the new genomics: an introduction to the NHS Genomic Medicine Service for oral healthcare professionals

British dental journal, 2020-11, Vol.229 (10), p.682-686

2020

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.274-280

2013

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Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce

Frontiers in genetics, 2019-11, Vol.10, p.1094-1094

2019

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Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.769-777

2012

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Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

Journal of allergy and clinical immunology, 2016-12, Vol.138 (6), p.1722-1725.e6

2016

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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.184-191

2014

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Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

American journal of human genetics, 1999-11, Vol.65 (5), p.1279-1290

1999

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Genetics in medicine, 2017-02, Vol.19 (2), p.192-203

2017

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Nucleic acids research, 2007-03, Vol.35 (6), p.2013-2025

2007

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Nucleic acids research, 2007-03, Vol.35 (6), p.2013

2007

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3106-3118

2013

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DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

European heart journal, 2010-04, Vol.31 (8), p.926-935

2010

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1941-1949

2007

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Neurology, 2017-09, Vol.89 (10), p.1035-1042

2017

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Erratum: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

European journal of human genetics : EJHG, 2013-08, Vol.21 (9), p.1031-1031

2013

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.1031-1031

2013

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Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing

Genetic testing, 2005-09, Vol.9 (3), p.190-199

2005

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Inherited cardiovascular conditions: the challenges of genomic medicine

Heart, 2010-03, Vol.96 (6), p.474-476

2010

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2631-2639

2006

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Chapter 4 - Genomic education and training for clinical laboratory workforce

Genomic Medicine Skills and Competencies, 2022, p.53-61

2022

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The mitochondrial genome in Wolfram syndrome

Journal of medical genetics, 2000-06, Vol.37 (6), p.463-466

2000

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Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications

Archives of ophthalmology (1960), 2012-11, Vol.130 (11), p.1486

2012

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Using the Findings of a National Survey to Inform the Work of England's Genomics Education Programme

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Welcome to the new genomics: an introduction to the NHS Genomic Medicine Service for oral healthcare professionals

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Prevalence and architecture of de novo mutations in developmental disorders

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Erratum: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing

Inherited cardiovascular conditions: the challenges of genomic medicine

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Chapter 4 - Genomic education and training for clinical laboratory workforce

The mitochondrial genome in Wolfram syndrome

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications

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