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Rapid genomic testing for critically ill children: time to become standard of care?

European journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.142-149

2022

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Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1645-1653

2021

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Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Genetics in medicine, 2019-11, Vol.21 (11), p.2586-2593

2019

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The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

Genetics in medicine, 2021-01, Vol.23 (1), p.155-162

2021

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Parents' experiences of decision making for rapid genomic sequencing in intensive care

European journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1804-1810

2021

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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Nature communications, 2021-05, Vol.12 (1), p.2678-2678, Article 2678

2021

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Clinical genomic testing: what matters to key stakeholders?

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.866-873

2020

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Determining the utility of diagnostic genomics: a conceptual framework

Human genomics, 2023-08, Vol.17 (1), p.1-75, Article 75

2023

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The application of long-read sequencing in clinical settings

Human genomics, 2023-08, Vol.17 (1), p.73-73, Article 73

2023

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Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis

Scientific reports, 2024-04, Vol.14 (1), p.7717-7717, Article 7717

2024

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Parental health spillover effects of paediatric rare genetic conditions

Quality of life research, 2020-09, Vol.29 (9), p.2445-2454

2020

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The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

Genetics in medicine, 2020-08, Vol.22 (8), p.1384-1390

2020

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SYT1-associated neurodevelopmental disorder: a case series

Brain (London, England : 1878), 2018-09, Vol.141 (9), p.2576-2591

2018

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Response to Ferket et al

Genetics in medicine, 2020-11, Vol.22 (11), p.1910-1910

2020

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Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Genetics in medicine, 2020-12, Vol.22 (12), p.1976-1985

2020

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A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Journal of medical genetics, 2020-12, Vol.57 (12), p.835-842

2020

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Consent for rapid genomic sequencing for critically ill children: legal and ethical issues

Monash bioethics review, 2021-12, Vol.39 (Suppl 1), p.117-129

2021

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Human molecular genetics, 2014-06, Vol.23 (11), p.2888-2900

2014

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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Genetics in medicine, 2020-12, Vol.22 (12), p.1986-1993

2020

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Multi-omics for better and faster rare disease diagnosis

Nature medicine, 2023-07, Vol.29 (7), p.1615-1616

2023

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Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Npj genomic medicine, 2021-01, Vol.6 (1), p.5-5, Article 5

2021

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Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?

Clinical chemistry (Baltimore, Md.), 2022-12, Vol.68 (12), p.1484-1485

2022

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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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Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kidney international reports, 2021-02, Vol.6 (2), p.272-283

2021

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Rapid genomic testing for critically ill children: time to become standard of care?

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

Parents' experiences of decision making for rapid genomic sequencing in intensive care

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Clinical genomic testing: what matters to key stakeholders?

Determining the utility of diagnostic genomics: a conceptual framework

The application of long-read sequencing in clinical settings

Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis

Parental health spillover effects of paediatric rare genetic conditions

The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

SYT1-associated neurodevelopmental disorder: a case series

Response to Ferket et al

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Consent for rapid genomic sequencing for critically ill children: legal and ethical issues

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Multi-omics for better and faster rare disease diagnosis

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?

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

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

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