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Colin A. Ellis
Colin A. Ellis
Assistant Professor of Neurology, University of Pennsylvania
Verified email at uphs.upenn.edu
Title
Cited by
Cited by
Year
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
2302019
Epilepsy genetics: clinical impacts and biological insights
CA Ellis, S Petrovski, SF Berkovic
The Lancet Neurology 19 (1), 93-100, 2020
1192020
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
902019
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
742017
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
612022
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
592008
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
522020
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
452021
Personalized medicine in genetic epilepsies–possibilities, challenges, and new frontiers
I Helbig, CA Ellis
Neuropharmacology 172, 107970, 2020
432020
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
372021
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
332014
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
322008
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
292020
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
272020
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
262022
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
262018
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
242022
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
202019
Construct validity of an attention rating scale for traumatic brain injury.
T Hart, J Whyte, C Ellis, I Chervoneva
Neuropsychology 23 (6), 729, 2009
192009
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
182021
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