|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