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Page 1
Comprehensive molecular profiling of multiple myeloma identifies refined copy number and expression subtypes.
Skerget S, Penaherrera D, Chari A, Jagannath S, Siegel DS, Vij R, Orloff G, Jakubowiak A, Niesvizky R, Liles D, Berdeja J, Levy M, Wolf J, Usmani SZ; MMRF CoMMpass Network; Christofferson AW, Nasser S, Aldrich JL, Legendre C, Benard B, Miller C, Turner B, Kurdoglu A, Washington M, Yellapantula V, Adkins JR, Cuyugan L, Boateng M, Helland A, Kyman S, McDonald J, Reiman R, Stephenson K, Tassone E, Blanski A, Livermore B, Kirchhoff M, Rohrer DC, D'Agostino M, Gamella M, Collison K, Stumph J, Kidd P, Donnelly A, Zaugg B, Toone M, McBride K, DeRome M, Rogers J, Craig D, Liang WS, Gutierrez NC, Jewell SD, Carpten J, Anderson KC, Cho HJ, Auclair D, Lonial S, Keats JJ. Skerget S, et al. Among authors: d agostino m, craig d. Nat Genet. 2024 Sep;56(9):1878-1889. doi: 10.1038/s41588-024-01853-0. Epub 2024 Aug 19. Nat Genet. 2024. PMID: 39160255 Free PMC article.
Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder.
Mertens J, Wang QW, Kim Y, Yu DX, Pham S, Yang B, Zheng Y, Diffenderfer KE, Zhang J, Soltani S, Eames T, Schafer ST, Boyer L, Marchetto MC, Nurnberger JI, Calabrese JR, Ødegaard KJ, McCarthy MJ, Zandi PP, Alda M, Nievergelt CM; Pharmacogenomics of Bipolar Disorder Study; Mi S, Brennand KJ, Kelsoe JR, Gage FH, Yao J. Mertens J, et al. Nature. 2015 Nov 5;527(7576):95-9. doi: 10.1038/nature15526. Epub 2015 Oct 28. Nature. 2015. PMID: 26524527 Free PMC article.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
HLA typing in anti-GAD antibody associated epilepsy.
Gillinder L, Powell T, Craig D, Walsh S, Gillis D, McCombe P. Gillinder L, et al. Among authors: craig d. Epilepsy Behav. 2024 Dec 13;163:110179. doi: 10.1016/j.yebeh.2024.110179. Online ahead of print. Epilepsy Behav. 2024. PMID: 39673990
1,446 results