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Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP. Birey F, et al. Among authors: bernstein ja. Nature. 2017 May 4;545(7652):54-59. doi: 10.1038/nature22330. Epub 2017 Apr 26. Nature. 2017. PMID: 28445465 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: bernstein ja. Elife. 2016 Jul 26;5:e13073. doi: 10.7554/eLife.13073. Elife. 2016. PMID: 27458797 Free PMC article.
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, Röst HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP. Rego S, et al. Among authors: bernstein ja. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003178. doi: 10.1101/mcs.a003178. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30487145 Free PMC article.
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: bernstein ja. 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.
Inappropriate p53 activation during development induces features of CHARGE syndrome.
Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD. Van Nostrand JL, et al. Among authors: bernstein ja. Nature. 2014 Oct 9;514(7521):228-32. doi: 10.1038/nature13585. Epub 2014 Aug 3. Nature. 2014. PMID: 25119037 Free PMC article.
734 results