Works matching DE "EXOMES"

Results: 1973
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    A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 683, doi. 10.1007/s10815-017-0900-z
    By:
    • Okutman, Ozlem;
    • Muller, Jean;
    • Skory, Valerie;
    • Garnier, Jean;
    • Gaucherot, Angeline;
    • Baert, Yoni;
    • Lamour, Valérie;
    • Serdarogullari, Munevver;
    • Gultomruk, Meral;
    • Röpke, Albrecht;
    • Kliesch, Sabine;
    • Herbepin, Viviana;
    • Aknin, Isabelle;
    • Benkhalifa, Moncef;
    • Teletin, Marius;
    • Bakircioglu, Emre;
    • Goossens, Ellen;
    • Charlet-Berguerand, Nicolas;
    • Bahceci, Mustafa;
    • Tüttelmann, Frank
    Publication type:
    Article
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    Global copy number profiling of cancer genomes.

    Published in:
    Bioinformatics, 2016, v. 32, n. 6, p. 926, doi. 10.1093/bioinformatics/btv676
    By:
    • Xuefeng Wang;
    • Mengjie Chen;
    • Xiaoqing Yu;
    • Pornputtapong, Natapol;
    • Hao Chen;
    • Zhang, Nancy R.;
    • Powers, R. Scott;
    • Krauthammer, Michael
    Publication type:
    Article
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    Rates of contributory de novo mutation in high and low-risk autism families.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02533-z
    By:
    • Yoon, Seungtai;
    • Munoz, Adriana;
    • Yamrom, Boris;
    • Lee, Yoon-ha;
    • Andrews, Peter;
    • Marks, Steven;
    • Wang, Zihua;
    • Reeves, Catherine;
    • Winterkorn, Lara;
    • Krieger, Abba M.;
    • Buja, Andreas;
    • Pradhan, Kith;
    • Ronemus, Michael;
    • Baldwin, Kristin K.;
    • Levy, Dan;
    • Wigler, Michael;
    • Iossifov, Ivan
    Publication type:
    Article
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    Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

    Published in:
    Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.693
    By:
    • Depienne, Christel;
    • Ciura, Sorana;
    • Trouillard, Oriane;
    • Bouteiller, Delphine;
    • Leitão, Elsa;
    • Nava, Caroline;
    • Keren, Boris;
    • Marie, Yannick;
    • Guegan, Justine;
    • Forlani, Sylvie;
    • Brice, Alexis;
    • Anheim, Mathieu;
    • Agid, Yves;
    • Krack, Paul;
    • Damier, Philippe;
    • Viallet, François;
    • Houeto, Jean-Luc;
    • Durif, Franck;
    • Vidailhet, Marie;
    • Worbe, Yulia
    Publication type:
    Article
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    Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 7, p. 832, doi. 10.1002/acn3.582
    By:
    • Raghavan, Neha S.;
    • Brickman, Adam M.;
    • Andrews, Howard;
    • Manly, Jennifer J.;
    • Schupf, Nicole;
    • Lantigua, Rafael;
    • Wolock, Charles J.;
    • Kamalakaran, Sitharthan;
    • Petrovski, Slave;
    • Tosto, Giuseppe;
    • Vardarajan, Badri N.;
    • Goldstein, David B.;
    • Mayeux, Richard;
    • The Alzheimer's Disease Sequencing Project
    Publication type:
    Article
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    <italic>De novo</italic> variants in <italic>CAMK2A</italic> and <italic>CAMK2B</italic> cause neurodevelopmental disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 280, doi. 10.1002/acn3.528
    By:
    • Akita, Tenpei;
    • Aoto, Kazushi;
    • Kato, Mitsuhiro;
    • Shiina, Masaaki;
    • Mutoh, Hiroki;
    • Nakashima, Mitsuko;
    • Kuki, Ichiro;
    • Okazaki, Shin;
    • Magara, Shinichi;
    • Shiihara, Takashi;
    • Yokochi, Kenji;
    • Aiba, Kaori;
    • Tohyama, Jun;
    • Ohba, Chihiro;
    • Miyatake, Satoko;
    • Miyake, Noriko;
    • Ogata, Kazuhiro;
    • Fukuda, Atsuo;
    • Matsumoto, Naomichi;
    • Saitsu, Hirotomo
    Publication type:
    Article
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    α5GABA<sub>A</sub> receptor deficiency causes autism-like behaviors.

    Published in:
    Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 392, doi. 10.1002/acn3.303
    By:
    • Zurek, Agnieszka A.;
    • Kemp, Stephen W. P.;
    • Aga, Zeenia;
    • Walker, Susan;
    • Milenkovic, Marija;
    • Ramsey, Amy J.;
    • Sibille, Etienne;
    • Scherer, Stephen W.;
    • Orser, Beverley A.
    Publication type:
    Article