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Results 1-10 of 39 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2013Common variants in mendelian kidney disease genes and their association with renal functionParsa, A.; Fuchsberger, C.; Köttgen, A.; O'Seaghdha, C.; Pattaro, C.; De Andrade, M.; Chasman, D.; Teumer, A.; Endlich, K.; Olden, M.; Chen, M.; Tin, A.; Kim, Y.; Taliun, D.; Li, M.; Feitosa, M.; Gorski, M.; Yang, Q.; Hundertmark, C.; Foster, M.; et al.
2018Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypesRuderfer, D.M.; Ripke, S.; McQuillin, A.; Boocock, J.; Stahl, E.A.; Pavlides, J.M.W.; Mullins, N.; Charney, A.W.; Ori, A.P.S.; Loohuis, L.M.O.; Domenici, E.; Di Florio, A.; Papiol, S.; Kalman, J.L.; Trubetskoy, V.; Adolfsson, R.; Agartz, I.; Agerbo, E.; Akil, H.; Albani, D.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2021Dire wolves were the last of an ancient New World canid lineagePerri, A.R.; Mitchell, K.J.; Mouton, A.; Álvarez-Carretero, S.; Hulme-Beaman, A.; Haile, J.; Jamieson, A.; Meachen, J.; Lin, A.T.; Schubert, B.W.; Ameen, C.; Antipina, E.E.; Bover, P.; Brace, S.; Carmagnini, A.; Carøe, C.; Samaniego Castruita, J.A.; Chatters, J.C.; Dobney, K.; Dos Reis, M.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2017Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traitsJustice, A.; Winkler, T.; Feitosa, M.; Graff, M.; Fisher, V.; Young, K.; Barata, L.; Deng, X.; Czajkowski, J.; Hadley, D.; Ngwa, J.; Ahluwalia, T.; Chu, A.; Heard-Costa, N.; Lim, E.; Perez, J.; Eicher, J.; Kutalik, Z.; Xue, L.; Mahajan, A.; et al.
2019A heritable subset of the core rumen microbiome dictates dairy cow productivity and emissionsJohn Wallace, R.; Sasson, G.; Garnsworthy, P.C.; Tapio, I.; Gregson, E.; Bani, P.; Huhtanen, P.; Bayat, A.R.; Strozzi, F.; Biscarini, F.; Snelling, T.J.; Saunders, N.; Potterton, S.L.; Craigon, J.; Minuti, A.; Trevisi, E.; Callegari, M.L.; Cappelli, F.P.; Cabezas-Garcia, E.H.; Vilkki, J.; et al.
2020RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AMLBrown, A.L.; Arts, P.; Carmichael, C.L.; Babic, M.; Dobbins, J.; Chong, C.-E.; Schreiber, A.W.; Feng, J.; Phillips, K.; Wang, P.P.S.; Ha, T.; Homan, C.C.; King-Smith, S.L.; Rawlings, L.; Vakulin, C.; Dubowsky, A.; Burdett, J.; Moore, S.; McKavanagh, G.; Henry, D.; et al.

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