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PreviewIssue DateTitleAuthor(s)
2017Lost in translation: returning germline genetic results in genome-scale cancer researchJohns, A.; McKay, S.; Humphris, J.; Pinese, M.; Chantrill, L.; Mead, R.; Tucker, K.; Andrews, L.; Goodwin, A.; Leonard, C.; High, H.; Nones, K.; Waddell, N.; Patch, A.; Merrett, N.; Pavlakis, N.; Kassahn, K.; Samra, J.; Miller, D.; Chang, D.; et al.
2017The Stone Age plague and its persistence in EurasiaAndrades Valtueña, A.; Mittnik, A.; Key, F.; Haak, W.; Allmäe, R.; Belinskij, A.; Daubaras, M.; Feldman, M.; Jankauskas, R.; Janković, I.; Massy, K.; Novak, M.; Pfrengle, S.; Reinhold, S.; Šlaus, M.; Spyrou, M.; Szécsényi-Nagy, A.; Tõrv, M.; Hansen, S.; Bos, K.; et al.
2017Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculusWeyrich, L.; Duchene, S.; Soubrier, J.; Arriola, L.; Llamas, B.; Breen, J.; Morris, A.; Alt, K.; Caramelli, D.; Dresely, V.; Farrell, M.; Farrer, A.; Francken, M.; Gully, N.; Haak, W.; Hardy, K.; Harvati, K.; Held, P.; Holmes, E.; Kaidonis, J.; et al.
2017A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformationsPalmer, E.; Kumar, R.; Gordon, C.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.; Lewis, A.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; et al.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; 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.