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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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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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Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Genetics in medicine, 2019-01, Vol.21 (1), p.173-180

2019

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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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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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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

International journal of molecular sciences, 2022-01, Vol.23 (2), p.986

2022

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A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2016-07, Vol.4 (4), p.777-779

2016

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Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Human mutation, 2011-12, Vol.32 (12), p.1500-1506

2011

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Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: Audit of current practice

Journal of paediatrics and child health, 2008-07, Vol.44 (7-8), p.399-403

2008

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Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context

Pediatrics (Evanston), 2022-12, Vol.150 (6), p.1

2022

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Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Genetics in medicine, 2017-08, Vol.19 (8), p.867-874

2017

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

JAMA : the journal of the American Medical Association, 2020-06, Vol.323 (24), p.2503

2020

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Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Genetics in medicine, 2022-05, Vol.24 (5), p.1037-1044

2022

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Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Genetics in medicine, 2019-02, Vol.21 (2), p.498-504

2019

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Integrated multi-omics for rapid rare disease diagnosis on a national scale

Nature medicine, 2023-07, Vol.29 (7), p.1681-1691

2023

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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA neurology, 2022-04, Vol.79 (4), p.405

2022

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Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

European journal of medical genetics, 2018-12, Vol.61 (12), p.738-740

2018

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Metronidazole Toxicity in Cockayne Syndrome: A Case Series

Pediatrics (Evanston), 2015-09, Vol.136 (3), p.e706

2015

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A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1268-1272

2017

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Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.394-399

2015

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Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.773-776

2016

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SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2319-2326

2015

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

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

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

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

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

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation—A case report and review of the literature

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Discussing withholding and withdrawing of life-sustaining medical treatment in paediatric inpatients: Audit of current practice

Rapid Genome Sequencing: Consent for New Technologies in the Neonatal Intensive Care Context

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

The severe epilepsy syndromes of infancy: A population‐based study

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway

Metronidazole Toxicity in Cockayne Syndrome: A Case Series

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

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