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A framework for the investigation of rare genetic disorders in neuropsychiatry.
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. Sanders SJ, et al. Among authors: dolmetsch r. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Nat Med. 2019. PMID: 31548702 Free PMC article. Review.
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.
Khan TA, Revah O, Gordon A, Yoon SJ, Krawisz AK, Goold C, Sun Y, Kim CH, Tian Y, Li MY, Schaepe JM, Ikeda K, Amin ND, Sakai N, Yazawa M, Kushan L, Nishino S, Porteus MH, Rapoport JL, Bernstein JA, O'Hara R, Bearden CE, Hallmayer JF, Huguenard JR, Geschwind DH, Dolmetsch RE, Paşca SP. Khan TA, et al. Among authors: dolmetsch re. Nat Med. 2020 Dec;26(12):1888-1898. doi: 10.1038/s41591-020-1043-9. Epub 2020 Sep 28. Nat Med. 2020. PMID: 32989314 Free PMC article.
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Sun Y, Paşca SP, Portmann T, Goold C, Worringer KA, Guan W, Chan KC, Gai H, Vogt D, Chen YJ, Mao R, Chan K, Rubenstein JL, Madison DV, Hallmayer J, Froehlich-Santino WM, Bernstein JA, Dolmetsch RE. Sun Y, et al. Among authors: dolmetsch re. Elife. 2016 Jul 26;5:e13073. doi: 10.7554/eLife.13073. Elife. 2016. PMID: 27458797 Free PMC article.
82 results