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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Schmidts M, et al. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. Hum Mutat. 2013. PMID: 23418020 Free PMC article.
Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.
Ostrom QT, Kinnersley B, Armstrong G, Rice T, Chen Y, Wiencke JK, McCoy LS, Hansen HM, Amos CI, Bernstein JL, Claus EB, Eckel-Passow JE, Il'yasova D, Johansen C, Lachance DH, Lai RK, Merrell RT, Olson SH, Sadetzki S, Schildkraut JM, Shete S, Rubin JB, Andersson U, Rajaraman P, Chanock SJ, Linet MS, Wang Z, Yeager M; GliomaScan consortium; Houlston RS, Jenkins RB, Wrensch MR, Melin B, Bondy ML, Barnholtz-Sloan JS. Ostrom QT, et al. Int J Cancer. 2018 Nov 15;143(10):2359-2366. doi: 10.1002/ijc.31759. Epub 2018 Sep 19. Int J Cancer. 2018. PMID: 30152087 Free PMC article.