A5062527698- Erythrocyte Function and Pathophysiology
- Neurological disorders and treatments
- Obstructive Sleep Apnea Research
- Craniofacial Disorders and Treatments
- Meningioma and schwannoma management
- Blood properties and coagulation
- Genomic variations and chromosomal abnormalities
- interferon and immune responses
- Chromatin Remodeling and Cancer
- Blood disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Congenital Heart Disease Studies
- Peptidase Inhibition and Analysis
- Neurofibromatosis and Schwannoma Cases
- Genetics and Neurodevelopmental Disorders
Royal North Shore Hospital
2024
Neuroscience Research Australia
2023
UNSW Sydney
2023
New South Wales Department of Health
2023
Sydney Children's Hospital
2022-2023
Prince of Wales Hospital
2023
Queensland Children’s Hospital
2016
Abstract Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting reduced or complete loss-of-function (LOF) of encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype both males females. Through international clinical matchmaking interrogation public variant databases we assembled database 90 rare missense families: 41 unique 18 recurrent 49 families. For 43 families, including 22 33 females, collated detailed...
Abstract Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay. It caused by single nucleotide variants (SNVs) in PUF60 or interstitial deletions of the 8q24.3 region. encodes splicing factor which forms part spliceosome. To date, 36 patients sole diagnosis VRJS due to disease‐causing SNVs have been reported peer‐reviewed publications. Although depth their phenotyping has varied...
Abstract Heterozygous ARID1B variants result in Coffin–Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, hypotonia without clinical diagnosis, where previously unreported missense variant was classified as uncertain...
<b>Introduction:</b> Children with Down Syndrome (DS) are at risk of obstructive sleep apnoea (OSA), a prevalence 45-79% (de Miguel-Diez <i>et al.</i> Sleep 2003;26(8):1006-9). Treatment protocols using continuous positive airway pressure (CPAP) for OSA in DS not dissimilar to the general population. <b>AIM:</b> To evaluate experience our institution CPAP treat children <b>Methods:</b> A retrospective review clinical data whom therapy was started between 2000-2012 undertaken. <b>Results:</b>...
Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences the barriers enablers to decision-making are poorly understood. The purpose of this study was explore opinions individuals NF in Australia inform development practice recommendations resources. Focus groups adults were conducted using a semi-structured interview schedule developed by research team. Partners also invited. focus recorded,...