David Mowat
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View article: SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder Open
View article: Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort Open
Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The “no mutations identified” (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants n…
View article: Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy Open
Our findings reveal that ARID1B duplications manifest a clinical phenotype, and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopat…
View article: Table of Contents
Table of Contents Open
View article: Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort Open
View article: A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship Open
View article: The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers Open
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic co…
View article: The role of exome sequencing in childhood interstitial or diffuse lung disease
The role of exome sequencing in childhood interstitial or diffuse lung disease Open
View article: Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis Open
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of WG…
View article: Incidence of Duchenne muscular dystrophy in the modern era; an Australian study
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study Open
View article: <i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder
<i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder Open
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (S…
View article: Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life Open
Objective Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease (chILD). We explored parent’s and child’s health-related quality of life (HRQoL), parents’ perceived u…
View article: Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations Open
View article: The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome
The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome Open
The Zeb2 gene encodes a transcription factor (ZEB2) that acts as an important immune mediator in mice, where it is expressed in early-activated effector CD8 T cells, and limits effector differentiation. Zeb2 homozygous knockout mice have d…
View article: Paediatric genomic testing: Navigating medicare rebatable genomic testing
Paediatric genomic testing: Navigating medicare rebatable genomic testing Open
Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics …
View article: WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase Open
Whole-genome sequencing relied heavily on RNA studies to identify DMD splice-altering variants. Short-read RNA sequencing was regularly confounded by the effectiveness of nonsense-mediated mRNA decay and low read depth of the giant …
View article: Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Open
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutatio…
View article: Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Open
This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system. However, further research is needed to understand the clin…
View article: Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Open
View article: Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Open
View article: Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients Open
View article: MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement Open
MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype-phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in a small number of patients pr…
View article: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders Open
View article: 023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia
023 Genetic carrier screening for duchenne muscular dystrophy: the outcome of over twenty years of genetic counselling on disease epidemiology in a single-centre cohort study in new south wales (NSW), australia Open
Introduction Duchenne Muscular Dystrophy (DMD), an X-linked recessive genetic disorder is maternally inherited in approximately two-thirds of affected boys. Female relatives have carrier risk. This study proposes that proactive genetic scr…
View article: Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway Open
View article: Additional file 2: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Additional file 2: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders Open
In silico analysis of novel POMT1 mutations. This file shows the result of the in silico analysis of pathogenicity for all novel POMT1 mutations identified in this study. (XLSX 11 kb)
View article: Additional file 1: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Additional file 1: of Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders Open
List of all mutations in POMT1. This file lists all causative mutations identified to date in the POMT1 gene. (XLSX 27 kb)
View article: Genetics of neuromuscular fetal akinesia in the genomics era
Genetics of neuromuscular fetal akinesia in the genomics era Open
Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throug…
View article: Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Open
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families …
View article: Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness Open
Background Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but the…