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Page 1
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: torkamani a. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Chen YZ, et al. Among authors: torkamani a. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. Ann Neurol. 2014. PMID: 24700542 Free PMC article.
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. Chen DH, et al. Among authors: torkamani a. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.
Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?
Rueda M, Wagner JL, Phillips TC, Topol SE, Muse ED, Lucas JR, Wagner GN, Topol EJ, Torkamani A. Rueda M, et al. Among authors: torkamani a. Front Cardiovasc Med. 2017 Nov 9;4:72. doi: 10.3389/fcvm.2017.00072. eCollection 2017. Front Cardiovasc Med. 2017. PMID: 29181379 Free PMC article.
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 genome sequencing program for novel undiagnosed diseases.
Bloss CS, Zeeland AA, Topol SE, Darst BF, Boeldt DL, Erikson GA, Bethel KJ, Bjork RL, Friedman JR, Hwynn N, Patay BA, Pockros PJ, Scott ER, Simon RA, Williams GW, Schork NJ, Topol EJ, Torkamani A. Bloss CS, et al. Among authors: torkamani a. Genet Med. 2015 Dec;17(12):995-1001. doi: 10.1038/gim.2015.21. Epub 2015 Mar 19. Genet Med. 2015. PMID: 25790160 Free PMC article.
Whole-Genome Sequencing of a Healthy Aging Cohort.
Erikson GA, Bodian DL, Rueda M, Molparia B, Scott ER, Scott-Van Zeeland AA, Topol SE, Wineinger NE, Niederhuber JE, Topol EJ, Torkamani A. Erikson GA, et al. Among authors: torkamani a. Cell. 2016 May 5;165(4):1002-11. doi: 10.1016/j.cell.2016.03.022. Epub 2016 Apr 21. Cell. 2016. PMID: 27114037 Free PMC article.
Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Boeldt DL, Cheung C, Ariniello L, Darst BF, Topol S, Schork NJ, Philis-Tsimikas A, Torkamani A, Fortmann AL, Bloss CS. Boeldt DL, et al. Among authors: torkamani a. Per Med. 2017 Jan;14(1):17-25. doi: 10.2217/pme-2016-0050. Epub 2016 Nov 30. Per Med. 2017. PMID: 29749824
144 results