Elizabeth Emma Palmer
Elizabeth Emma Palmer
Clinical Geneticist, Sydney Children’s Hospital;Lecturer, UNSW
Verified email at - Homepage
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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures
VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ...
Cell 172 (5), 924-936. e11, 2018
Agenesis of the corpus callosum: a clinical approach to diagnosis
EE Palmer, D Mowat
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ...
Nature communications 11 (1), 4932, 2020
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: evidence of clinical utility and cost effectiveness
EE Palmer, D Schofield, R Shrestha, T Kandula, R Macintosh, JA Lawson, ...
Molecular genetics & genomic medicine 6 (2), 186-199, 2018
DNM1 encephalopathy: A new disease of vesicle fission
S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ...
Neurology 89 (4), 385-394, 2017
Automated ASD detection using hybrid deep lightweight features extracted from EEG signals
M Baygin, S Dogan, T Tuncer, PD Barua, O Faust, N Arunkumar, ...
Computers in Biology and Medicine 134, 104548, 2021
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ...
The American Journal of Human Genetics 97 (2), 302-310, 2015
Asparagine synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine
EE Palmer, J Hayner, R Sachdev, M Cardamone, T Kandula, P Morris, ...
Molecular genetics and metabolism 116 (3), 178-186, 2015
Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability
E Palmer, H Speirs, PJ Taylor, G Mullan, G Turner, S Einfeld, B Tonge, ...
American journal of medical genetics Part A 164 (2), 377-385, 2014
Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies
H Cheng, AV Dharmadhikari, S Varland, N Ma, D Domingo, R Kleyner, ...
The American Journal of Human Genetics 102 (5), 985-994, 2018
Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies
EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ...
Neurology 96 (13), e1770-e1782, 2021
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ...
Molecular psychiatry 23 (2), 222-230, 2018
The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
A Zerem, K Haginoya, D Lev, L Blumkin, S Kivity, I Linder, C Shoubridge, ...
Epilepsia 57 (11), 1858-1869, 2016
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
JL Zambonin, A Bellomo, H Ben-Pazi, DB Everman, LM Frazer, ...
Orphanet journal of rare diseases 12, 1-8, 2017
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
M Smogavec, A Cleall, J Hoyer, D Lederer, MC Nassogne, EE Palmer, ...
Journal of medical genetics 53 (12), 820-827, 2016
GaborPDNet: Gabor transformation and deep neural network for Parkinson’s disease detection using EEG signals
HW Loh, CP Ooi, E Palmer, PD Barua, S Dogan, T Tuncer, M Baygin, ...
Electronics 10 (14), 1740, 2021
Automated detection of ADHD: Current trends and future perspective
HW Loh, CP Ooi, PD Barua, EE Palmer, F Molinari, UR Acharya
Computers in Biology and Medicine 146, 105525, 2022
Autism spectrum disorder diagnostic assessments: improvements since publication of the National Autism Plan for Children
E Palmer, C Ketteridge, JR Parr, G Baird, A Le Couteur
Archives of Disease in Childhood 96 (5), 473-475, 2011
New insights into Brunner syndrome and potential for targeted therapy
EE Palmer, M Leffler, C Rogers, M Shaw, R Carroll, J Earl, NW Cheung, ...
Clinical genetics 89 (1), 120-127, 2016
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
V Lanoue, YJ Chai, JZ Brouillet, S Weckhuysen, EE Palmer, BM Collins, ...
Neurology 93 (3), 114-123, 2019
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