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THE IMPACT OF INLUENZA A ON CHILDREN WITH DISABILITIES

Journal of paediatrics and child health, 2004-05, Vol.40 (5-6), p.332-332

2004

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The impact of influenza A on children with disabilities

Journal of paediatrics and child health, 2004-05, Vol.40 (5-6), p.332-332

2004

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MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

PLoS genetics, 2017-08, Vol.13 (8), p.e1006957

2017

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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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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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SYT1-associated neurodevelopmental disorder: a case series

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

2018

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Integrating Genomics into Healthcare: A Global Responsibility

American journal of human genetics, 2019-01, Vol.104 (1), p.13-20

2019

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Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1493-1501

2019

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Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery

European journal of human genetics : EJHG, 2022-11, Vol.30 (11), p.1276-1282

2022

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Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

American journal of human genetics, 2019-07, Vol.105 (1), p.7-14

2019

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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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Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

Human mutation, 2015-12, Vol.36 (12), p.1176-1187

2015

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Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Genetics in medicine, 2018-12, Vol.20 (12), p.1554-1563

2018

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The role of exome sequencing in childhood interstitial or diffuse lung disease

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-350, Article 350

2022

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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Nature medicine, 2024-07, Vol.30 (7), p.1823-1825

2024

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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

Volltextzugriff (PDF)

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Brain (London, England : 1878), 2017-08, Vol.140 (8), p.2093-2103

2017

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Genotype and phenotype spectrum of NRAS germline variants

European journal of human genetics : EJHG, 2017-05, Vol.25 (7), p.823-831

2017

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

Epilepsia (Copenhagen), 2021-02, Vol.62 (2), p.358-370

2021

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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

American journal of human genetics, 2021-09, Vol.108 (9), p.1551-1557

2021

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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

European journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1791-1799

2019

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Methyl‐CpG binding domain 4, DNA glycosylase (MBD4)‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

British journal of haematology, 2022-07, Vol.198 (1), p.196-199

2022

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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in medicine, 2019-04, Vol.21 (4), p.850-860

2019

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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in medicine, 2020-11, Vol.22 (11), p.1920-1920

2020

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A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability

Genetics in medicine, 2024-07, p.101224, Article 101224

2024

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THE IMPACT OF INLUENZA A ON CHILDREN WITH DISABILITIES

The impact of influenza A on children with disabilities

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

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

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

SYT1-associated neurodevelopmental disorder: a case series

Integrating Genomics into Healthcare: A Global Responsibility

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

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

Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

The role of exome sequencing in childhood interstitial or diffuse lung disease

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

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

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Genotype and phenotype spectrum of NRAS germline variants

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

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Methyl‐CpG binding domain 4, DNA glycosylase (MBD4)‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability

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