Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 5

Results: 17
    1

    Exome arrays capture polygenic rare variant contributions to schizophrenia.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 1001, doi. 10.1093/hmg/ddv620
    By:
    • Richards, A. L.;
    • Leonenko, G.;
    • Walters, J. T.;
    • Kavanagh, D. H.;
    • Rees, E. G.;
    • Evans, A.;
    • Chambert, K. D.;
    • Moran, J. L.;
    • Goldstein, J.;
    • Neale, B. M.;
    • McCarroll, S. A.;
    • Pocklington, A. J.;
    • Holmans, P. A.;
    • Owen, M. J.;
    • O'Donovan, M. C.
    Publication type:
    Article
    2

    Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 1031, doi. 10.1093/hmg/ddv626
    By:
    • Wilson, Ian J.;
    • Carling, Phillipa J.;
    • Alston, Charlotte L.;
    • Floros, Vasileios I.;
    • Pyle, Angela;
    • Hudson, Gavin;
    • Sallevelt, Suzanne C. E. H.;
    • Lamperti, Costanza;
    • Carelli, Valerio;
    • Bindoff, Laurence A.;
    • Samuels, David C.;
    • Wonnapinij, Passorn;
    • Zeviani, Massimo;
    • Taylor, Robert W.;
    • Smeets, Hubert J. M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.
    Publication type:
    Article
    3
    4

    Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 1008, doi. 10.1093/hmg/ddv622
    By:
    • Stacey, Simon N.;
    • Kehr, Birte;
    • Gudmundsson, Julius;
    • FlorianZink;
    • Jonasdottir, Aslaug;
    • Gudjonsson, Sigurjon A.;
    • Sigurdsson, Asgeir;
    • Halldorsson, Bjarni V.;
    • Agnarsson, Bjarni A.;
    • Benediktsdottir, Kristrun R.;
    • Aben, Katja K. H.;
    • Vermeulen, Sita H.;
    • Cremers, Ruben G.;
    • Panadero, Angeles;
    • Helfand, Brian T.;
    • Cooper, Phillip R.;
    • Donovan, Jenny L.;
    • Hamdy, Freddie C.;
    • Jinga, Viorel;
    • Ichiro Okamoto
    Publication type:
    Article
    5

    Assessing similarity to primary tissue and cortical layer identity in induced pluripotent stem cell-derived cortical neurons through single-cell transcriptomics.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 989, doi. 10.1093/hmg/ddv637
    By:
    • Handel, Adam E.;
    • Chintawar, Satyan;
    • Lalic, Tatjana;
    • Whiteley, Emma;
    • Vowles, Jane;
    • Giustacchini, Alice;
    • Argoud, Karene;
    • Sopp, Paul;
    • Nakanishi, Mahito;
    • Bowden, Rory;
    • Cowley, Sally;
    • Newey, Sarah;
    • Akerman, Colin;
    • Ponting, Chris P.;
    • Cader, M. Zameel
    Publication type:
    Article
    6
    7
    8

    LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 951, doi. 10.1093/hmg/ddv628
    By:
    • Sloan, Max;
    • Alegre-Abarrategui, Javier;
    • Potgieter, Dawid;
    • Kaufmann, Anna-Kristin;
    • Exley, Richard;
    • Deltheil, Thierry;
    • Threlfell, Sarah;
    • Connor-Robson, Natalie;
    • Brimblecombe, Katherine;
    • Wallings, Rebecca;
    • Cioroch, Milena;
    • Bannerman, David M.;
    • Bolam, J. Paul;
    • Magill, Peter J.;
    • Cragg, Stephanie J.;
    • Dodson, Paul D.;
    • Wade-Martins, Richard
    Publication type:
    Article
    9
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    12

    TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 892, doi. 10.1093/hmg/ddv618
    By:
    • Wei Ba;
    • Yan Yan;
    • Reijnders, Margot R. F.;
    • Schuurs-Hoeijmakers, Janneke H. M.;
    • Feenstra, Ilse;
    • Bongers, Ernie M. H. F.;
    • Bosch, Daniëlle G. M.;
    • De Leeuw, Nicole;
    • Pfundt, Rolph;
    • Gilissen, Christian;
    • De Vries, Petra F.;
    • Veltman, Joris A.;
    • Hoischen, Alexander;
    • Mefford, Heather C.;
    • Eichler, Evan E.;
    • Vissers, Lisenka E. L. M.;
    • Kasri, Nael Nadif;
    • De Vries, Bert B. A.
    Publication type:
    Article
    13
    14

    A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 916, doi. 10.1093/hmg/ddv624
    By:
    • Meunier, Isabelle;
    • Lenaers, Guy;
    • Bocquet, Béatrice;
    • Baudoin, Corinne;
    • Piro-Megy, Camille;
    • Cubizolle, Aurélie;
    • Quilès, Mélanie;
    • Jean-Charles, Albert;
    • Cohen, Salomon Yves;
    • Merle, Harold;
    • Gaudric, Alain;
    • Labesse, Gilles;
    • Manes, Gaël;
    • Péquignot, Marie;
    • Cazevieille, Chantal;
    • Dhaenens, Claire-Marie;
    • Fichard, Agnès;
    • Ronkina, Natalia;
    • Arthur, Simon J.;
    • Gaestel, Matthias
    Publication type:
    Article
    15

    Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 5, p. 878, doi. 10.1093/hmg/ddv617
    By:
    • Escoffier, Jessica;
    • Hoi Chang Lee;
    • Yassine, Sandra;
    • Zouari, Raoudha;
    • Martinez, Guillaume;
    • Karaouzène, Thomas;
    • Coutton, Charles;
    • Kherraf, Zine-eddine;
    • Halouani, Lazhar;
    • Triki, Chema;
    • Nef, Serge;
    • Thierry-Mieg, Nicolas;
    • Savinov, Sergey N.;
    • Fissore, Rafael;
    • Ray, Pierre F.;
    • Arnoult, Christophe
    Publication type:
    Article
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