| 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 | 270 | 2019 |
| Epilepsy genetics: clinical impacts and biological insights CA Ellis, S Petrovski, SF Berkovic The Lancet Neurology 19 (1), 93-100, 2020 | 138 | 2020 |
| Predicting functional effects of missense variants in voltage-gated sodium and calcium channels HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ... Science translational medicine 12 (556), eaay6848, 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 | 109 | 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 | 85 | 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 | 81 | 2022 |
| 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 | 63 | 2020 |
| 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 | 62 | 2008 |
| 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 | 58 | 2021 |
| Personalized medicine in genetic epilepsies–possibilities, challenges, and new frontiers I Helbig, CA Ellis Neuropharmacology 172, 107970, 2020 | 53 | 2020 |
| GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Nature genetics 55 (9), 1471-1482, 2023 | 49 | 2023 |
| 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 | 46 | 2022 |
| 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 | 45 | 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 | 39 | 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 | 38 | 2022 |
| 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 | 34 | 2008 |
| 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 | 33 | 2020 |
| Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals L Montanucci, D Lewis-Smith, RL Collins, LM Niestroj, S Parthasarathy, ... Nature communications 14 (1), 4392, 2023 | 29 | 2023 |
| 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 | 29 | 2018 |
