Alexandra MacDonald
A5088497039- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Congenital heart defects research
- Epilepsy research and treatment
- Genomics and Chromatin Dynamics
- Congenital Ear and Nasal Anomalies
- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Congenital Anomalies and Fetal Surgery
- Chromatin Remodeling and Cancer
- Genetic factors in colorectal cancer
- Oral and Craniofacial Lesions
- Erythrocyte Function and Pathophysiology
- Cancer-related Molecular Pathways
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Food Allergy and Anaphylaxis Research
- Pancreatic function and diabetes
- dental development and anomalies
University of Wollongong
2016
Instituto de Salud Carlos III
2010-2015
Ministry of Economy, Industry and Competitiveness
2015
Abstract Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer epilepsy risk and subtypes carry the CNV burden, have not been explored on a genome-wide scale. Here, we present largest investigation to date with 10 712 European cases 6746 ancestry-matched controls. Patients genetic generalized epilepsy, lesional focal non-acquired developmental epileptic encephalopathy were...
Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out investigate the burden ultra-rare variants (URVs) comprehensive range biologically informed presumed be implicated epileptogenesis. The 12 URV types 92 was compared between cases and controls using whole exome sequencing data from individuals European descent with developmental epileptic encephalopathies (DEE, n = 1,003), genetic generalized (GGE, 3,064), or non-acquired focal (NAFE,...
The increasing use of molecular tools in genetic diagnosis has produced a surge the detection genomic imbalances. Among growing number newly discovered chromosome alterations are interstitial deletions 14q21-q23. In previous reports this deletion, patients appear to share ocular defects, pituitary and hand/foot anomalies. Here, we present 12-year-old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, moderate developmental delay, whom an deletion 14q22.3-q23.2 was detected...
Abstract We present a girl with the characteristic clinical picture associated Marden–Walker syndrome (MWS; OMIM 248700), including mask‐like face blepharophimosis, joint contractures, intellectual disability, multicystic dysplastic kidney and cerebral dysgenesis. The long‐term follow‐up allowed us to monitor evolution of phenotype in this patient, among main findings we highlight following: demyelination pyramidal tract demonstrated by transcranial magnetic stimulation involvement levator...
Abstract Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared distinct ultra-rare genetic factors epilepsies, we performed whole-exome sequencing (WES) analysis 9,170 epilepsy-affected individuals 8,364 controls European ancestry. We focused on three phenotypic groups; but developmental epileptic encephalopathies (DEE), commoner phenotypes generalized epilepsy (GGE)...
Warburg–Micro syndrome (WARBM) is an autosomal recessive characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This caused mutations in the RAB3GAP1/2 RAB18 genes, part of Rab family, TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis WARBM syndrome, who did not have either main exons , nor gene. However, analysis CGH‐array detected 9.6 Mb...
We describe a patient with 1.34 Mb microdeletion at chromosome band 17q22, which is also present in his affected mother. To better delineate this syndrome, we compare the clinical and molecular characteristics of 10 previously reported cases our patient. Of these, has smallest deletion includes five genes: MMD, TMEM100, PCTP, ANKFN1, NOG. manifestations described relation to NOG, since only gene whose loss shared by other eight patients. Previously, patterns associated NOG mutations have...
Oral Allergen Testing (Food Challenge) in Australia is provided by specialist allergy services. There can be lengthy waiting periods for Food Challenges with the increasing prevalence of food allergy. Provision general paediatric departments could help address this service shortfall. To determine safety and effectiveness a regional Challenge service, we conducted retrospective review at Wollongong Hospital. Hospital medical record was all patients who underwent during period Jan 2010 – Sept...