Articles with public access mandates - Colin A. EllisLearn more
Not available anywhere: 6
Epilepsy genetics: clinical impacts and biological insights
CA Ellis, S Petrovski, SF Berkovic
The Lancet Neurology 19 (1), 93-100, 2020
Mandates: US National Institutes of Health
Personalized medicine in genetic epilepsies–possibilities, challenges, and new frontiers
I Helbig, CA Ellis
Neuropharmacology 172, 107970, 2020
Mandates: US National Institutes of Health, German Research Foundation
Long‐term epilepsy outcome dynamics revealed by natural language processing of clinic notes
K Xie, RS Gallagher, RT Shinohara, SX Xie, CE Hill, EC Conrad, ...
Epilepsia 64 (7), 1900-1909, 2023
Mandates: US Department of Defense, US National Institutes of Health
Disparities in genetic testing for neurologic disorders
A Baldwin, J Copeland, M Azage, L Dratch, K Johnson, RA Paul, ...
Neurology 102 (6), e209161, 2024
Mandates: Michael J Fox Foundation
Familial aggregation of seizure outcomes in four familial epilepsy cohorts
CA Ellis, D Tu, KL Oliver, HC Mefford, WA Hauser, J Buchhalter, ...
Epilepsia, 2024
Mandates: National Health and Medical Research Council, Australia
The role of copy number variants in the genetic architecture of common familial epilepsies
Epi4K Consortium, EP Almanza Fuerte, J Nguyen, M Mehaffey, A Sulovari, ...
Epilepsia 65 (3), 792-804, 2024
Mandates: Howard Hughes Medical Institute
Available somewhere: 44
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
E Collaborative, YCA Feng, DP Howrigan, LE Abbott, K Tashman, ...
American Journal of Human Genetics 105 (2), 267-282, 2019
Mandates: US National Institutes of Health, UK Medical Research Council, National …
A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy
I Helbig, T Lopez-Hernandez, O Shor, P Galer, S Ganesan, M Pendziwiat, ...
The American Journal of Human Genetics 104 (6), 1060-1072, 2019
Mandates: US National Institutes of Health, German Research Foundation, Luxembourg …
Timing is everything: where status epilepticus treatment fails
CE Hill, AO Parikh, C Ellis, JS Myers, B Litt
Annals of neurology 82 (2), 155-165, 2017
Mandates: US National Institutes of Health
Assessing the landscape of STXBP1-related disorders in 534 individuals
J Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ...
Brain 145 (5), 1668-1683, 2022
Mandates: US National Institutes of Health, Research Foundation (Flanders), German …
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
Mandates: US National Institutes of Health, Academy of Finland, UK Medical Research …
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
K Crawford, J Xian, KL Helbig, PD Galer, S Parthasarathy, D Lewis-Smith, ...
Genetics in Medicine 23 (7), 1263-1272, 2021
Mandates: US National Institutes of Health, Wellcome Trust
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
Mandates: US National Institutes of Health, UK Medical Research Council
Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies
PD Galer, S Ganesan, D Lewis-Smith, SE McKeown, M Pendziwiat, ...
The American Journal of Human Genetics 107 (4), 683-697, 2020
Mandates: US National Institutes of Health, German Research Foundation, Wellcome Trust
Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing
K Xie, RS Gallagher, EC Conrad, CO Garrick, SN Baldassano, ...
Journal of the American Medical Informatics Association 29 (5), 873-881, 2022
Mandates: US Department of Defense, US National Institutes of Health
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation
S Ganesan, PD Galer, KL Helbig, SE McKeown, M O’Brien, AK Gonzalez, ...
Genetics in Medicine 22 (12), 2060-2070, 2020
Mandates: US National Institutes of Health
Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood
H Stamberger, D Crosiers, G Balagura, CM Bonardi, A Basu, G Cantalupo, ...
Neurology 99 (3), e221-e233, 2022
Mandates: US National Institutes of Health, National Health and Medical Research …
Randomized controlled trial of melatonin for sleep disturbance in Dravet syndrome: the DREAMS study
KA Myers, MJ Davey, M Ching, C Ellis, BE Grinton, A Roten, PA Lightfoot, ...
Journal of Clinical Sleep Medicine 14 (10), 1697-1704, 2018
Mandates: US Department of Defense, US National Institutes of Health, National Health …
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
S Galosi, BH Edani, S Martinelli, H Hansikova, EA Eklund, C Caputi, ...
Brain 145 (1), 208-223, 2022
Mandates: US National Institutes of Health, Fonds de recherche du Québec - Santé …
Cerebrospinal fluid in posterior reversible encephalopathy syndrome: implications of elevated protein and pleocytosis
CA Ellis, AC McClelland, S Mohan, E Kuo, SE Kasner, C Zhang, ...
The Neurohospitalist 9 (2), 58-64, 2019
Mandates: US National Institutes of Health
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