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Expansion of the genetic landscape of ERLIN2-related disorders.
Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Srivastava S, et al. Among authors: cohen js. Ann Clin Transl Neurol. 2020 Apr;7(4):573-578. doi: 10.1002/acn3.51007. Epub 2020 Mar 8. Ann Clin Transl Neurol. 2020. PMID: 32147972 Free PMC article.
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Among authors: cohen js. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. Torkamani A, et al. Ann Neurol. 2014 Oct;76(4):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19. Ann Neurol. 2014. PMID: 25164438 Free PMC article.
A diagnostic approach for cerebral palsy in the genomic era.
Lee RW, Poretti A, Cohen JS, Levey E, Gwynn H, Johnston MV, Hoon AH, Fatemi A. Lee RW, et al. Among authors: cohen js. Neuromolecular Med. 2014 Dec;16(4):821-44. doi: 10.1007/s12017-014-8331-9. Epub 2014 Oct 4. Neuromolecular Med. 2014. PMID: 25280894 Free PMC article.
BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. Srivastava S, et al. Among authors: cohen js. Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Am J Med Genet A. 2016. PMID: 27282546 Free PMC article. Review.
536 results