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Page 1
The genomic landscape of familial glioma.
Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium; Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M. Choi DJ, et al. Among authors: kasperaviciute d. Sci Adv. 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. Epub 2023 Apr 28. Sci Adv. 2023. PMID: 37115922 Free PMC article.
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. Chiò A, et al. Among authors: kasperaviciute d. Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4. Hum Mol Genet. 2009. PMID: 19193627 Free PMC article.
A common single-nucleotide variant in T is strongly associated with chordoma.
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Pillay N, et al. Among authors: kasperaviciute d. Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064415
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A. Gerrard G, et al. Among authors: kasperaviciute d. Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30. Br J Haematol. 2013. PMID: 23718193 Free article.
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, Carrington M, Sills GJ, Marson T, Jia X, de Bakker PI, Chinthapalli K, Molokhia M, Johnson MR, O'Connor GD, Chaila E, Alhusaini S, Shianna KV, Radtke RA, Heinzen EL, Walley N, Pandolfo M, Pichler W, Park BK, Depondt C, Sisodiya SM, Goldstein DB, Deloukas P, Delanty N, Cavalleri GL, Pirmohamed M. McCormack M, et al. Among authors: kasperaviciute d. N Engl J Med. 2011 Mar 24;364(12):1134-43. doi: 10.1056/NEJMoa1013297. N Engl J Med. 2011. PMID: 21428769 Free PMC article.
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ. Schymick JC, et al. Among authors: kasperaviciute d. Lancet Neurol. 2007 Apr;6(4):322-8. doi: 10.1016/S1474-4422(07)70037-6. Lancet Neurol. 2007. PMID: 17362836
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: epilepsy-austin@unimelb.edu.au. International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: epilepsy-austin@unimelb.edu.au. Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30. Lancet Neurol. 2014. PMID: 25087078 Free PMC article.
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.
Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME, Bauer M, Bearden CE, Bergmann O, Binder EB, Blangero J, Bockholt HJ, Bøen E, Bois C, Boomsma DI, Booth T, Bowman IJ, Bralten J, Brouwer RM, Brunner HG, Brohawn DG, Buckner RL, Buitelaar J, Bulayeva K, Bustillo JR, Calhoun VD, Cannon DM, Cantor RM, Carless MA, Caseras X, Cavalleri GL, Chakravarty MM, Chang KD, Ching CR, Christoforou A, Cichon S, Clark VP, Conrod P, Coppola G, Crespo-Facorro B, Curran JE, Czisch M, Deary IJ, de Geus EJ, den Braber A, Delvecchio G, Depondt C, de Haan L, de Zubicaray GI, Dima D, Dimitrova R, Djurovic S, Dong H, Donohoe G, Duggirala R, Dyer TD, Ehrlich S, Ekman CJ, Elvsåshagen T, Emsell L, Erk S, Espeseth T, Fagerness J, Fears S, Fedko I, Fernández G, Fisher SE, Foroud T, Fox PT, Francks C, Frangou S, Frey EM, Frodl T, Frouin V, Garavan H, Giddaluru S, Glahn DC, Godlewska B, Goldstein RZ, Gollub RL, Grabe HJ, Grimm O, Gruber O, Guadalupe T, Gur RE, Gur RC, Göring HH, Ha… See abstract for full author list ➔ Thompson PM, et al. Among authors: kasperaviciute d. Brain Imaging Behav. 2014 Jun;8(2):153-82. doi: 10.1007/s11682-013-9269-5. Brain Imaging Behav. 2014. PMID: 24399358 Free PMC article. Review.
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium; International League Against Epilepsy Consortium on Complex Epilepsies. Schijven D, et al. Neurobiol Aging. 2020 Aug;92:153.e1-153.e5. doi: 10.1016/j.neurobiolaging.2020.04.011. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409253 Free PMC article.
131 results