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Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

Expert opinion on biological therapy, 2012-06, Vol.12 (S1), p.S119-S126

2012

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Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Archives of pathology & laboratory medicine (1976), 2013-07, Vol.137 (7), p.983-988

2013

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Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Human mutation, 2005-06, Vol.25 (6), p.593-594

2005

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Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.913-920

2008

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Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.728-736

2006

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.857-864

2011

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Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma

Prenatal diagnosis, 2007-10, Vol.27 (10), p.932-937

2007

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.10-17

2011

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Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

European journal of human genetics : EJHG, 2013-03, Vol.21 (4), p.478-478

2013

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Integrated regional genetic services: current and future provision

BMJ (Online), 2001-04, Vol.322 (7293), p.1048-1052

2001

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Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.478-478

2013

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.547-555

2005

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Prenatal diagnosis in a family with X-linked hydrocephalus

Prenatal diagnosis, 2005-10, Vol.25 (10), p.930-933

2005

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Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Human mutation, 2005-06, Vol.25 (6), p.593-594

2005

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.150-154

2007

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Molecular genetic testing in the United States: comparison with international practice

Genetic testing, 2008-06, Vol.12 (2), p.187-193

2008

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overview of clinical molecular genetics

Molecular biotechnology, 1997-10, Vol.8 (2), p.95-104

ELLES, R

1997

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Report of an International Survey of Molecular Genetic Testing Laboratories

Community genetics, 2007-01, Vol.10 (3), p.123-131

2007

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.150-154

2007

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Integrated regional genetic services: Current and future provision / Commentary

BMJ. British medical journal (International ed.), 2001-04, Vol.322 (7293), p.1048

International edition, 2001

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A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

European journal of human genetics : EJHG, 1999-02, Vol.7 (2), p.217-222

1999

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Retaining the Confidence of the Public in Molecular Genetic Testing – Quality Assurance

Community genetics, 2000, Vol.3 (4), p.164-169

2000

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The added value of risk assessment and subsequent targeted treatment for epileptic seizures after stroke: An early-HTA analysis

Epilepsy & behavior, 2024-02, Vol.151, p.109594-109594, Article 109594

2024

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A Comprehensive View on MRI Techniques for Imaging Blood-Brain Barrier Integrity

Investigative radiology, 2021-01, Vol.56 (1), p.10-19

2021

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Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Novel and recurrent mutations in the C-terminal domain ofCOMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

Benchmark for Evaluating the Quality of DNA Sequencing: Proposal from an International External Quality Assessment Scheme

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Integrated regional genetic services: current and future provision

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

Prenatal diagnosis in a family with X-linked hydrocephalus

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia - multiple epiphyseal dysplasia disease group

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Molecular genetic testing in the United States: comparison with international practice

overview of clinical molecular genetics

Report of an International Survey of Molecular Genetic Testing Laboratories

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Integrated regional genetic services: Current and future provision / Commentary

A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease

Retaining the Confidence of the Public in Molecular Genetic Testing – Quality Assurance

The added value of risk assessment and subsequent targeted treatment for epileptic seizures after stroke: An early-HTA analysis

A Comprehensive View on MRI Techniques for Imaging Blood-Brain Barrier Integrity

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