Elizabeth E. Palmer
A5062153529- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Autism Spectrum Disorder Research
- EEG and Brain-Computer Interfaces
- Family and Disability Support Research
- RNA modifications and cancer
- RNA Research and Splicing
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Childhood Cancer Survivors' Quality of Life
- Transcranial Magnetic Stimulation Studies
- CRISPR and Genetic Engineering
- Functional Brain Connectivity Studies
- Ion channel regulation and function
- Prenatal Screening and Diagnostics
- Neuroscience and Neural Engineering
- Muscle activation and electromyography studies
- Neurological disorders and treatments
- Ethics and Legal Issues in Pediatric Healthcare
- Adolescent and Pediatric Healthcare
- Cystic Fibrosis Research Advances
- Down syndrome and intellectual disability research
UNSW Sydney
2016-2025
Sydney Children’s Hospitals Network
2021-2025
Pennsylvania State University
1979-2025
Sydney Children's Hospital
2013-2024
Case Western Reserve University
2024
Mississippi State University
2024
New South Wales Department of Health
2024
Hunter Genetics
2015-2022
VIB-UAntwerp Center for Molecular Neurology
2019-2022
Antwerp University Hospital
2019-2022
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
Abstract Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between cost outcomes of WGS WES in a cohort with suspected disorders. was performed 38 WES-negative families derived from 64 family that previously underwent WES. For new diagnoses, contemporary reanalysis determined whether variants were diagnosable by original or unique to WGS. Diagnostic rates...
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify RNA RNU4-2 as a syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 base pair region mapping two structural elements...
1. Magnetic stimulation was applied over the motor cortex in forty‐five normal human subjects and peristimulus time histograms (PSTHs) of discharges single units were used to record changes firing probability individual spinal motoneurones contralateral upper limb muscles. Recordings obtained from 153 fourteen 2. For majority initial effect a short latency facilitation. The estimated central conduction velocities rise times underlying excitatory postsynaptic potentials (EPSPs) compatible...
Certain mutations can cause proteins to accumulate in neurons, leading neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration mice. therefore searched for human patients with PUM1 mutations. identified eleven individuals either deletions or de novo missense variants who suffer developmental syndrome (Pumilio1-associated disability,...
SUMMARY To most authors the study of nerve terminations in mammalian skin has been an exercise descriptive morphology. A single histological technique was usually considered adequate and presumably impeccable, for observations resulting from different techniques were not compared possibility artefacts considered. The literature is thus excessively large full controversies over minutiae. It also contains theories concerning organization nervous system which are at variance with results...
Abstract Background Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing gene panel testing improve diagnostic yield but there is no cost‐effectiveness analysis their use or consensus on how to best integrate these tests into pathways. Methods We conducted retrospective study comparing trio exome with standard approach, for well‐phenotyped cohort 32 patients epileptic...
To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations predicted functional consequences based on structural modeling.We reviewed data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation known undertook biomolecular modeling assess effect function.We identified 19 de novo a sibling pair who had an inherited from mosaic parent. Seven (33.3%)...
Parkinson’s disease (PD) is globally the most common neurodegenerative movement disorder. It characterized by a loss of dopaminergic neurons in substantia nigra brain. However, current methods to diagnose PD on basis clinical features Parkinsonism may lead misdiagnoses. Hence, noninvasive such as electroencephalographic (EEG) recordings patients can be an alternative biomarker. In this study, deep-learning model proposed for automated diagnosis. EEG 16 healthy controls and 15 were used...
<h3>Objective</h3> To assess the benefits and limitations of whole genome sequencing (WGS) compared to exome (ES) or multigene panel (MGP) in molecular diagnosis developmental epileptic encephalopathies (DEE). <h3>Methods</h3> We performed WGS 30 comprehensively phenotyped DEE patient trios that were undiagnosed after first-tier testing, including chromosomal microarray either research ES (n = 15) diagnostic MGP 15). <h3>Results</h3> Eight diagnoses made 15 individuals who received prior...
Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, relapsing encephalopathy ataxia (all ATP1A3). A few reports described single individuals ATP1A2/A3 severe epilepsies. Early lethal hydrops fetalis,...
Epilepsy is one of the most common neurological conditions globally, and fourth in United States. Recurrent non-provoked seizures characterize it have huge impacts on quality life financial for affected individuals. A rapid accurate diagnosis essential order to instigate monitor optimal treatments. There also a compelling need interpretation epilepsy due current scarcity neurologist diagnosticians global inequity access outcomes. Furthermore, existing clinical traditional machine learning...