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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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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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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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Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

Genes, 2019-04, Vol.10 (4), p.279

2019

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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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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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Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.644-651

2018

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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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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

American journal of human genetics, 2016-02, Vol.98 (2), p.373-381

2016

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Genetics in medicine, 2024-05, Vol.26 (5), p.101076, Article 101076

2024

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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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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.820-823

2017

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A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

Australasian journal of dermatology, 2011-02, Vol.52 (1), p.48-51

2011

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De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

European journal of medical genetics, 2010-09, Vol.53 (5), p.337-339

2010

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SYT1-associated neurodevelopmental disorder: a case series

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

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

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

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

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

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

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

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

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

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

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

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

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

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

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

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