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 | 248 | 2019 |
Epilepsy genetics: clinical impacts and biological insights CA Ellis, S Petrovski, SF Berkovic The Lancet Neurology 19 (1), 93-100, 2020 | 126 | 2020 |
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 | 102 | 2019 |
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 | 76 | 2017 |
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 | 65 | 2022 |
Comparative impact of 2 botulinum toxin injection techniques for elbow flexor hypertonia NH Mayer, J Whyte, G Wannstedt, CA Ellis Archives of Physical Medicine and Rehabilitation 89 (5), 982-987, 2008 | 59 | 2008 |
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 | 56 | 2020 |
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 | 48 | 2021 |
Personalized medicine in genetic epilepsies–possibilities, challenges, and new frontiers I Helbig, CA Ellis Neuropharmacology 172, 107970, 2020 | 48 | 2020 |
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 | 41 | 2021 |
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 | 36 | 2020 |
Opening the black box: lessons learned from an interdisciplinary inquiry into the learning-based contents of brain injury rehabilitation T Hart, M Ferraro, R Myers, CA Ellis Archives of physical medicine and rehabilitation 95 (1), S66-S73, 2014 | 34 | 2014 |
The Moss Attention Rating Scale for traumatic brain injury: Further explorations of reliability and sensitivity to change J Whyte, T Hart, CA Ellis, I Chervoneva Archives of physical medicine and rehabilitation 89 (5), 966-973, 2008 | 33 | 2008 |
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 | 32 | 2022 |
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 | 30 | 2020 |
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 | 28 | 2022 |
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 | 26 | 2018 |
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 | 21 | 2019 |
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 | 20 | 2022 |
Assessing seizure burden in pediatric epilepsy using an electronic medical record–based tool through a common data element approach MP Fitzgerald, MC Kaufman, SL Massey, S Fridinger, M Prelack, C Ellis, ... Epilepsia 62 (7), 1617-1628, 2021 | 20 | 2021 |