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Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1743-1751

2018

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Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.295-301

2024

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Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public

Journal of human genetics, 2020-12, Vol.65 (12), p.1055-1065

2020

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Return of individual research results from genomic research: A systematic review of stakeholder perspectives

PloS one, 2021-11, Vol.16 (11), p.e0258646-e0258646

2021

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Genomic newborn screening: public health policy considerations and recommendations

BMC medical genomics, 2017-02, Vol.10 (1), p.9-9, Article 9

2017

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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

American journal of human genetics, 2011-05, Vol.88 (5), p.566-573

2011

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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

Twin research and human genetics, 2020-06, Vol.23 (3), p.184-189

2020

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Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers

Best practice & research. Clinical obstetrics & gynaecology, 2017-10, Vol.44, p.57-67

2017

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Inductive content analysis: A guide for beginning qualitative researchers

Focus on health professional education, 2022-03, Vol.23 (1), p.111-127

2022

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Australian public perspectives on genomic newborn screening: which conditions should be included?

Human genomics, 2024-05, Vol.18 (1), p.45-9, Article 45

2024

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Why genomics researchers are sometimes morally required to hunt for secondary findings

BMC medical ethics, 2020-01, Vol.21 (1), p.11-11, Article 11

2020

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Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges

Children (Basel), 2023-05, Vol.10 (5), p.824

2023

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The social shaping of a diagnosis in Next Generation Sequencing

New genetics and society, 2021-10, Vol.40 (4), p.425-448

2021

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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

BMJ open, 2023-06, Vol.13 (6), p.e072999-e072999

2023

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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

American journal of human genetics, 2011-05, Vol.88 (5), p.657-663

2011

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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

BMJ open, 2024-04, Vol.14 (4), p.e081426-e081426

2024

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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

International journal of neonatal screening, 2024-01, Vol.10 (1), p.6

2024

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Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS

Epilepsia (Copenhagen), 2009-10, Vol.50 (10), p.2276-2284

2009

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Clinical genetic study of the epilepsy‐aphasia spectrum

Epilepsia (Copenhagen), 2013-02, Vol.54 (2), p.280-287

2013

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Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views

BMC medical ethics, 2017-08, Vol.18 (1), p.46-46, Article 46

2017

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Alleviating the confusion around content analysis: A comment in response to Wainstein, Elliott & Austin 2023

Journal of genetic counseling, 2024-10, Vol.33 (5), p.1126-1129

2024

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Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.150-154

2024

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Reporting practices for variants of uncertain significance from next generation sequencing technologies

European journal of medical genetics, 2017-10, Vol.60 (10), p.553-558

2017

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A systematic analysis of online marketing materials used by providers of expanded carrier screening

Genetics in medicine, 2018-09, Vol.20 (9), p.976-984

2018

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Disclosure of genetic information to family members: a systematic review of normative documents

Genetics in medicine, 2021-11, Vol.23 (11), p.2038-2046

2021

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Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations

Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the public

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

Genomic newborn screening: public health policy considerations and recommendations

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers

Inductive content analysis: A guide for beginning qualitative researchers

Australian public perspectives on genomic newborn screening: which conditions should be included?

Why genomics researchers are sometimes morally required to hunt for secondary findings

Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges

The social shaping of a diagnosis in Next Generation Sequencing

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS

Clinical genetic study of the epilepsy‐aphasia spectrum

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views

Alleviating the confusion around content analysis: A comment in response to Wainstein, Elliott & Austin 2023

Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Reporting practices for variants of uncertain significance from next generation sequencing technologies

A systematic analysis of online marketing materials used by providers of expanded carrier screening

Disclosure of genetic information to family members: a systematic review of normative documents

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