Colin A Ellis, MD
Assistant Professor of Neurology at the Hospital of the University of Pennsylvania
Assistant Professor of Neurology, University of Pennsylvania,
Department of Neurology
Interim Director, Penn Neurogenetics Therapy Center, University of Pennsylvania
Department: Neurology
Contact information
University of Pennsylvania
Department of Neurology
3 West Gates Building
Philadelphia, PA 19104
Department of Neurology
3 West Gates Building
Philadelphia, PA 19104
Office: 215-349-5166
Fax: 215-349-5733
Fax: 215-349-5733
Publications
Education:
ScB (Cog. Neuroscience)
Brown University, 2005.
MD (Medicine)
University of Pennsylvania School of Medicine, 2012.
Permanent linkScB (Cog. Neuroscience)
Brown University, 2005.
MD (Medicine)
University of Pennsylvania School of Medicine, 2012.
Description of Clinical Expertise
Dr. Ellis is a neurologist with expertise in the management of seizures and epilepsy. This includes expertise in EEG, anti-seizure medications, surgical treatment of epilepsy, neurostimulation, and implantable devices. Dr. Ellis also has clinical expertise in genetics and the genetic causes of epilepsy. He sees patients with epilepsy for genetic evaluations at the University of Pennsylvania and the Children's Hospital of Philadelphia.Description of Research Expertise
Dr. Ellis's research is focused on the genetic basis of epilepsy. He is particularly interested in the discovery of genes that cause epilepsy; the heritability of epilepsy within families; and the use of genetics to improve the diagnosis and treatment of epilepsy. An additional research focus in the mining of electronic health records using natural language processing.Selected Publications
Vizcarra JA, Yarlagadda S, Xie K, Ellis CA, Spindler M, Hammer LH.: Artificial Intelligence in the Diagnosis and Quantitative Phenotyping of Hyperkinetic Movement Disorders: A Systematic Review. J Clin Med 13: 7009, Nov 2024.Ellis CA, Oliver KL, Harris RV, Ottman R, Scheffer IE, Mefford HC, Epstein MP, Berkovic SF, Bahlo M.: Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias. Am J Hum Genet 111: 1805-1809, Sep 2024.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, et al.: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. medRxiv Sep 2024.
Raper AC, Weathers BL, Drivas TG, Ellis CA, Kripke CM, Oyer RA, Owens AT, Verma A, Wileyto PE, Wollack CC, Zhou W, Ritchie MD, Schnoll RA, Nathanson KL.: Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system. Implement Sci 19: 61, Aug 2024.
Hamedani AG, Ellis CA, Ehrlich JR, Willis AW.: Interaction between visual impairment and genetic risk of dementia and psychosis in older adults. Age Ageing 53: afae163, Jul 2024.
Xie K, Ojemann WKS, Gallagher RS, Shinohara RT, Lucas A, Hill CE, Hamilton RH, Johnson KB, Roth D, Litt B, Ellis CA.: Disparities in seizure outcomes revealed by large language models. J Am Med Inform Assoc 31: 1348-1355, May 2024.
Baldwin A, Copeland J, Azage M, Dratch L, Johnson K, Paul RA, Amado DA, Baer M, Deik A, Elman LB, Guo M, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn CC, Tropea TF, Scherer SS, Shinohara RT, Hamilton RH, Ellis CA.: Disparities in Genetic Testing for Neurologic Disorders. Neurology 102: e209161, Mar 2024.
Oliver KL, Scheffer IE, Ellis CA, Grinton BE; Epi4K Consortium; Berkovic SF, Bahlo M.: Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families. EBioMedicine 2024.
Galer PD, Parthasarathy S, Xian J, McKee JL, Ruggiero SM, Ganesan S, Kaufman MC, Cohen SR, Haag S, Chen C, Ojemann WKS, Kim D, Wilmarth O, Vaidiswaran P, Sederman C, Ellis CA, Gonzalez AK, Boßelmann CM, Lal D, Sederman R, Lewis-Smith D, Litt B, Helbig I.: Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals. Genet Med 2024.
Roggenbuck J, Morales A, Ellis CA, Dratch L, Stetler M, Tan CA, Bucknor B, Hatchell KE, Aradhya S, Esplin ED, Ting YL, Scherer SS.: Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy. J Peripher Nerv Syst 2024.