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Results 1-10 of 17 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2020Genetic history from the Middle Neolithic to present on the Mediterranean island of SardiniaMarcus, J.H.; Posth, C.; Ringbauer, H.; Lai, L.; Skeates, R.; Sidore, C.; Beckett, J.; Furtwängler, A.; Olivieri, A.; Chiang, C.W.K.; Al-Asadi, H.; Dey, K.; Joseph, T.A.; Liu, C.-C.; Der Sarkissian, C.; Radzevičiūtė, R.; Michel, M.; Gradoli, M.G.; Marongiu, P.; Rubino, S.; et al.
2021Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Nisselle, A.; Janinski, M.; Martyn, M.; McClaren, B.; Kaunein, N.; Barlow-Stewart, K.; Belcher, A.; Bernat, J.A.; Best, S.; Bishop, M.; Carroll, J.C.; Cornel, M.; Dissanayake, V.H.W.; Dodds, A.; Dunlop, K.; Garg, G.; Gear, R.; Graves, D.; Knight, K.; Korf, B.; et al.
2015Genetic heritage of the balto-slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal dataKushniarevich, A.; Utevska, O.; Chuhryaeva, M.; Agdzhoyan, A.; Dibirova, K.; Uktveryte, I.; Möls, M.; Mulahasanovic, L.; Pshenichnov, A.; Frolova, S.; Shanko, A.; Metspalu, E.; Reidla, M.; Tambets, K.; Tamm, E.; Koshel, S.; Zaporozhchenko, V.; Atramentova, L.; Kučinskas, V.; Davydenko, O.; et al.; Calafell, F.
2023Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareStark, Z.; Boughtwood, T.; Haas, M.; Braithwaite, J.; Gaff, C.L.; Goranitis, I.; Spurdle, A.B.; Hansen, D.P.; Hofmann, O.; Laing, N.; Metcalfe, S.; Newson, A.J.; Scott, H.S.; Thorne, N.; Ward, R.L.; Dinger, M.E.; Best, S.; Long, J.C.; Grimmond, S.M.; Pearson, J.; et al.
2019DNA hypermethylation encroachment at CpG island borders in cancer is predisposed by H3K4 monomethylation patternsSkvortsova, K.; Masle-Farquhar, E.; Luu, P.L.; Song, J.Z.; Qu, W.; Zotenko, E.; Gould, C.M.; Du, Q.; Peters, T.J.; Colino-Sanguino, Y.; Pidsley, R.; Nair, S.S.; Khoury, A.; Smith, G.C.; Miosge, L.A.; Reed, J.H.; Kench, J.G.; Rubin, M.A.; Horvath, L.; Bogdanovic, O.; et al.
2023Heritable defects in telomere and mitotic function selectively predispose to sarcomasBallinger, M.L.; Pattnaik, S.; Mundra, P.A.; Zaheed, M.; Rath, E.; Priestley, P.; Baber, J.; Ray-Coquard, I.; Isambert, N.; Causeret, S.; van der Graaf, W.T.A.; Puri, A.; Duffaud, F.; Le Cesne, A.; Seddon, B.; Chandrasekar, C.; Schiffman, J.D.; Brohl, A.S.; James, P.A.; Kurtz, J.-E.; et al.
1997Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean FeverAksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; et al.