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Results 21-27 of 27 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
2018Developing reproducible bioinformatics analysis workflows for heterogeneous computing environments to support African genomicsBaichoo, S.; Souilmi, Y.; Panji, S.; Botha, G.; Meintjes, A.; Hazelhurst, S.; Bendou, H.; de Beste, E.; Mpangase, P.; Souiai, O.; Alghali, M.; Yi, L.; O'Connor, B.; Crusoe, M.; Armstrong, D.; Aron, S.; Joubert, F.; Ahmed, A.; Mbiyavanga, M.; van Heusden, P.; 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.
2019Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorderTrzaskowski, M.; Mehta, D.; Peyrot, W.; Hawkes, D.; Davies, D.; Howard, D.; Kemper, K.; Sidorenko, J.; Maier, R.; Ripke, S.; Mattheisen, M.; Baune, B.; Grabe, H.; Heath, A.; Jones, L.; Jones, I.; Madden, P.; McIntosh, A.; Breen, G.; Lewis, C.; et al.