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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

BMJ (Online), 2018-04, Vol.361, p.k1687

2018

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Animation or leaflet: Does it make a difference when educating young people about genome sequencing?

Patient education and counseling, 2021-10, Vol.104 (10), p.2522-2530

2021

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Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge

European journal of medical genetics, 2019-05, Vol.62 (5), p.376-384

2019

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Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

Journal of genetic counseling, 2013-12, Vol.22 (6), p.902-906

2013

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Kidney international, 2023-11, Vol.104 (5), p.995-1007

2023

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Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders

European journal of human genetics : EJHG, 2016-01, Vol.25 (1), p.66-72

2016

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Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Journal of community genetics, 2022-06, Vol.13 (3), p.313-327

2022

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Communication about genetic testing with breast and ovarian cancer patients: a scoping review

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.511-524

2019

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A comparison of a genetic screening strategy and a biochemical strategy for population screening for hemochromatosis

Nursing & health sciences, 2005-06, Vol.7 (2), p.145-145

2005

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Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health

Genetics in medicine, 2005-10, Vol.7 (8), p.550-556

2005

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Comparison of two screening strategies for haemochromatosis: A pilot study investigating uptake and acceptability, feasibility and cost

Patch, Christine

2003

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Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Genetics in Medicine Open, 2024, Vol.2, p.101834, Article 101834

2024

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Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Journal of community genetics, 2022-06, Vol.13 (3), p.365-369

2022

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Correspondence on “Ensuring best practice in genomics education and evaluation: Reporting item standards for education and its evaluation in genomics (RISE2 Genomics)” by Nisselle et al

Genetics in medicine, 2022-04, Vol.24 (4), p.962-963

2022

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The costimulatory genes Cd80 and Cd86 are linked on mouse chromosome 16 and human chromosome 3

Mammalian genome, 1997-08, Vol.8 (8), p.581-582

1997

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Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented

Genes, 2023-10, Vol.14 (11)

2023

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Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022)

Genes, 2023-10, Vol.14 (11), p.2013

2023

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Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

Genetics in medicine, 2022-01, Vol.24 (1), p.61-74

2022

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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-06, Vol.177 (4), p.397-405

2018

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Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

BMJ open, 2019-11, Vol.9 (11), p.e029699-e029699

2019

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A Delphi study to determine the European core curriculum for Master programmes in genetic counselling

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1060-1066

2013

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Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries

Genome medicine, 2021-05, Vol.13 (1), p.92-92, Article 92

2021

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Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries

Genome medicine, 2021, Vol.13

2021

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Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Frontiers in genetics, 2022-05, Vol.13, p.866168-866168

2022

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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Animation or leaflet: Does it make a difference when educating young people about genome sequencing?

Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge

Building the Genetic Counsellor Profession in the United Kingdom: Two Decades of Growth and Development

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Communication about genetic testing with breast and ovarian cancer patients: a scoping review

A comparison of a genetic screening strategy and a biochemical strategy for population screening for hemochromatosis

Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health

Comparison of two screening strategies for haemochromatosis: A pilot study investigating uptake and acceptability, feasibility and cost

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

Correspondence on “Ensuring best practice in genomics education and evaluation: Reporting item standards for education and its evaluation in genomics (RISE2 Genomics)” by Nisselle et al

The costimulatory genes Cd80 and Cd86 are linked on mouse chromosome 16 and human chromosome 3

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022)

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

A Delphi study to determine the European core curriculum for Master programmes in genetic counselling

Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries

Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries

The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

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