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PreviewIssue DateTitleAuthor(s)
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.
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.
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.
2022BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivationKeniry, A.; Jansz, N.; Gearing, L.J.; Wanigasuriya, I.; Chen, J.; Nefzger, C.M.; Hickey, P.F.; Gouil, Q.; Liu, J.; Breslin, K.A.; Iminitoff, M.; Beck, T.; Tapia Del Fierro, A.; Whitehead, L.; Jarratt, A.; Kinkel, S.A.; Taberlay, P.C.; Willson, T.; Pakusch, M.; Ritchie, M.E.; et al.
1999Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesMcDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; 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.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.