Research output per year
Research output per year
Personal profile
Research interests
Headaches, migraines, seizures, movement disorders, cerebral palsy, Tourette syndrome and tic dirsorders
Clinical interests
Headaches, migraines, seizures, movement disorders, cerebral palsy, Tourette syndrome and tic disorders
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Dive into the research topics where Sheel Pathak is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 8 Article
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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, P., Duque Lasio, M. L., Magistrati, M., Pathak, S., Sample, B., Carvalho, D. R., Ortega, A. B., Castro, M. A. A., de Gusmao, C. M., Toler, T. L., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2023, In: Molecular genetics and metabolism. 139, 4, 107630.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry
Boyce, D., McGee, S., Shank, L., Pathak, S. & Gould, D., Dec 2021, In: Epilepsy and Behavior. 125, 108365.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Lewis, H., Samanta, D., Örsell, J. L., Bosanko, K. A., Rowell, A., Jones, M., Dale, R. C., Taravath, S., Hahn, C. D., Krishnakumar, D., Chagnon, S., Keller, S., Hagebeuk, E., Pathak, S., Bebin, E. M., Arndt, D. H., Alexander, J. J., Mainali, G., Coppola, G., Maclean, J., & 13 others, Nov 2020, In: Pediatric Neurology. 112, p. 94-100 7 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
Vanderver, A., Bernard, G., Helman, G., Sherbini, O., Boeck, R., Cohn, J., Collins, A., Demarest, S., Dobbins, K., Emrick, L., Fraser, J. L., Masser-Frye, D., Hayward, J., Karmarkar, S., Keller, S., Mirrop, S., Mitchell, W., Pathak, S., Sherr, E., van Haren, K., & 10 others, Aug 1 2020, In: Annals of neurology. 88, 2, p. 264-273 10 p.Research output: Contribution to journal › Article › peer-review
15 Scopus citations -
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities
Brereton, E., Fassi, E., Araujo, G. C., Dodd, J., Telegrafi, A., Pathak, S. J. & Shinawi, M., Mar 2018, In: Molecular Genetics and Genomic Medicine. 6, 2, p. 294-300 7 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations