Works matching IS 1756994X AND DT 2017 AND VI 9

Results: 118
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    B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
    By:
    • Maroofian, Reza;
    • Riemersma, Moniek;
    • Jae, Lucas T.;
    • Zhianabed, Narges;
    • Willemsen, Marjolein H.;
    • Wissink-Lindhout, Willemijn M.;
    • Willemsen, Michèl A.;
    • de Brouwer, Arjan P. M.;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • Ashrafi, Mahmoud Reza;
    • Kusters, Benno;
    • Kleefstra, Tjitske;
    • Jamshidi, Yalda;
    • Nasseri, Mojila;
    • Pfundt, Rolph;
    • Brummelkamp, Thijn R.;
    • Abbaszadegan, Mohammad Reza;
    • Lefeber, Dirk J.;
    • van Bokhoven, Hans
    Publication type:
    Article
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    Genetic variation in human drug-related genes.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0502-5
    By:
    • Irmgard Schärfe, Charlotta Pauline;
    • Tremmel, Roman;
    • Schwab, Matthias;
    • Kohlbacher, Oliver;
    • Marks, Debora Susan
    Publication type:
    Article
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    Methylation patterns in serum DNA for early identification of disseminated breast cancer.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0499-9
    By:
    • Widschwendter, Martin;
    • Evans, Iona;
    • Jones, Allison;
    • Ghazali, Shohreh;
    • Reisel, Daniel;
    • Ryan, Andy;
    • Gentry-Maharaj, Aleksandra;
    • Zikan, Michal;
    • Cibula, David;
    • Eichner, Johannes;
    • Alunni-Fabbroni, Marianna;
    • Koch, Julian;
    • Janni, Wolfgang J.;
    • Paprotka, Tobias;
    • Wittenberger, Timo;
    • Menon, Usha;
    • Wahl, Benjamin;
    • Rack, Brigitte;
    • Lempiäinen, Harri
    Publication type:
    Article
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    Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0497-y
    By:
    • Nguyen, Hoang T.;
    • Bryois, Julien;
    • Kim, April;
    • Dobbyn, Amanda;
    • Huckins, Laura M.;
    • Munoz-Manchado, Ana B.;
    • Ruderfer, Douglas M.;
    • Genovese, Giulio;
    • Fromer, Menachem;
    • Xinyi Xu;
    • Pinto, Dalila;
    • Linnarsson, Sten;
    • Verhage, Matthijs;
    • Smit, August B.;
    • Hjerling-Leffler, Jens;
    • Buxbaum, Joseph D.;
    • Hultman, Christina;
    • Sklar, Pamela;
    • Purcell, Shaun M.;
    • Lage, Kasper
    Publication type:
    Article
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    Mapping genetic variations to threedimensional protein structures to enhance variant interpretation: a proposed framework.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0509-y
    By:
    • Glusman, Gustavo;
    • Rose, Peter W.;
    • Prlić, Andreas;
    • Dougherty, Jennifer;
    • Duarte, José M.;
    • Hoffman, Andrew S.;
    • Barton, Geoffrey J.;
    • Bendixen, Emøke;
    • Bergquist, Timothy;
    • Bock, Christian;
    • Brunk, Elizabeth;
    • Buljan, Marija;
    • Burley, Stephen K.;
    • Binghuang Cai;
    • Carter, Hannah;
    • JianJiong Gao;
    • Godzik, Adam;
    • Heuer, Michael;
    • Hicks, Michael;
    • Hrabe, Thomas
    Publication type:
    Article
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    Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0486-1
    By:
    • Ridge, Perry G.;
    • Karch, Celeste M.;
    • Hsu, Simon;
    • Arano, Ivan;
    • Teerlink, Craig C.;
    • Ebbert, Mark T. W.;
    • Gonzalez Murcia, Josue D.;
    • Farnham, James M.;
    • Damato, Anna R.;
    • Allen, Mariet;
    • Xue Wang;
    • Harari, Oscar;
    • Fernandez, Victoria M.;
    • Guerreiro, Rita;
    • Bras, Jose;
    • Hardy, John;
    • Munger, Ronald;
    • Norton, Maria;
    • Sassi, Celeste;
    • Singleton, Andrew
    Publication type:
    Article
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    A novel Ruminococcus gnavus clade enriched in inflammatory bowel disease patients.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0490-5
    By:
    • Hall, Andrew Brantley;
    • Yassour, Moran;
    • Sauk, Jenny;
    • Garner, Ashley;
    • Xiaofang Jiang;
    • Arthur, Timothy;
    • Lagoudas, Georgia K.;
    • Vatanen, Tommi;
    • Fornelos, Nadine;
    • Wilson, Robin;
    • Bertha, Madeline;
    • Cohen, Melissa;
    • Garber, John;
    • Khalili, Hamed;
    • Gevers, Dirk;
    • Ananthakrishnan, Ashwin N.;
    • Kugathasan, Subra;
    • Lander, Eric S.;
    • Blainey, Paul;
    • Vlamakis, Hera
    Publication type:
    Article
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    A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0491-4
    By:
    • Polimanti, Renato;
    • Amstadter, Ananda B.;
    • Stein, Murray B.;
    • Almli, Lynn M.;
    • Baker, Dewleen G.;
    • Bierut, Laura J.;
    • Bradley, Bekh;
    • Farrer, Lindsay A.;
    • Johnson, Eric O.;
    • King, Anthony;
    • Kranzler, Henry R.;
    • Maihofer, Adam X.;
    • Rice, John P.;
    • Roberts, Andrea L.;
    • Saccone, Nancy L.;
    • Hongyu Zhao;
    • Liberzon, Israel;
    • Ressler, Kerry J.;
    • Nievergelt, Caroline M.;
    • Koenen, Karestan C.
    Publication type:
    Article
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    Actionable gene-based classification toward precision medicine in gastric cancer.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0484-3
    By:
    • Hiroshi Ichikawa;
    • Masayuki Nagahashi;
    • Yoshifumi Shimada;
    • Takaaki Hanyu;
    • Takashi Ishikawa;
    • Hitoshi Kameyama;
    • Takashi Kobayashi;
    • Jun Sakata;
    • Toshifumi Wakai;
    • Kazuaki Takabe;
    • Yiwei Ling;
    • Shujiro Okuda;
    • Kohei Akazawa;
    • Hiroshi Yabusaki;
    • Satoru Nakagawa;
    • Nobuaki Sato;
    • Yuki Hirata;
    • Yuko Kitagawa;
    • Toshiyuki Tanahashi;
    • Kazuhiro Yoshida
    Publication type:
    Article
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    Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

    Published in:
    Genome Medicine, 2017, v. 9, p. 14, doi. 10.1186/s13073-017-0482-5
    By:
    • Li, Alexander H.;
    • Boerwinkle, Eric;
    • Hanchard, Neil A.;
    • Fernbach, Susan;
    • Azamian, Mahshid;
    • Nicosia, Annarita;
    • Rosenfeld, Jill;
    • Eng, Christine;
    • Gibbs, Richard A.;
    • Lupski, James R.;
    • Belmont, John W.;
    • Furthner, Dieter;
    • Muzny, Donna;
    • Jhangiani, Shalini;
    • D'Alessandro, Lisa C. A.;
    • Morris, Shaine;
    • Parekh, Dhaval R.;
    • Franklin, Wayne J.;
    • Penny, Daniel J.;
    • Lewin, Mark
    Publication type:
    Article
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    Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0475-4
    By:
    • Nicol, Dianne;
    • Eckstein, Lisa;
    • Morrison, Michael;
    • Sherkow, Jacob S.;
    • Otlowski, Margaret;
    • Whitton, Tess;
    • Bubela, Tania;
    • Burdon, Kathryn P.;
    • Chalmers, Don;
    • Chan, Sarah;
    • Charlesworth, Jac;
    • Critchley, Christine;
    • Crossley, Merlin;
    • de Lacey, Sheryl;
    • Dickinson, Joanne L.;
    • Hewitt, Alex W.;
    • Kamens, Joanne;
    • Kazuto Kato;
    • Kleiderman, Erika;
    • Satoshi Kodama
    Publication type:
    Article
    36

    Creating a data resource: what will it take to build a medical information commons?

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0476-3
    By:
    • Deverka, Patricia A.;
    • Majumder, Mary A.;
    • Villanueva, Angela G.;
    • Anderson, Margaret;
    • Bakker, Annette C.;
    • Bardill, Jessica;
    • Boerwinkle, Eric;
    • Bubela, Tania;
    • Evans, Barbara J.;
    • Garrison, Nanibaa' A.;
    • Gibbs, Richard A.;
    • Gentleman, Robert;
    • Glazer, David;
    • Goldstein, Melissa M.;
    • Greely, Hank;
    • Harris, Crane;
    • Knoppers, Bartha M.;
    • Koenig, Barbara A.;
    • Kohane, Isaac S.;
    • La Rosa, Salvatore
    Publication type:
    Article
    37

    Identification of novel candidate disease genes from de novo exonic copy number variants.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
    By:
    • Gambin, Tomasz;
    • Bo Yuan;
    • Weimin Bi;
    • Pengfei Liu;
    • Rosenfeld, Jill A.;
    • Coban-Akdemir, Zeynep;
    • Pursley, Amber N.;
    • Nagamani, Sandesh C. S.;
    • Marom, Ronit;
    • Golla, Sailaja;
    • Dengle, Lauren;
    • Petrie, Heather G.;
    • Matalon, Reuben;
    • Emrick, Lisa;
    • Proud, Monica B.;
    • Treadwell-Deering, Diane;
    • Hsiao-Tuan Chao;
    • Koillinen, Hannele;
    • Brown, Chester;
    • Urraca, Nora
    Publication type:
    Article
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    The neoepitope landscape in pediatric cancers.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0468-3
    By:
    • Ti-Cheng Chang;
    • Carter, Robert A.;
    • Yongjin Li;
    • Yuxin Li;
    • Hong Wang;
    • Edmonson, Michael N.;
    • Xiang Chen;
    • Arnold, Paula;
    • Geiger, Terrence L.;
    • Gang Wu;
    • Peng, Junmin;
    • Dyer, Michael;
    • Downing, James R.;
    • Green, Douglas R.;
    • Thomas, Paul G.;
    • Jinghui Zhang
    Publication type:
    Article
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    Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0463-8
    By:
    • Bostwick, Bret L.;
    • McLean, Scott;
    • Posey, Jennifer E.;
    • Streff, Haley E.;
    • Gripp, Karen W.;
    • Blesson, Alyssa;
    • Powell-Hamilton, Nina;
    • Tusi, Jessica;
    • Stevenson, David A.;
    • Farrelly, Ellyn;
    • Hudgins, Louanne;
    • Yaping Yang;
    • Fan Xia;
    • Xia Wang;
    • Pengfei Liu;
    • Walkiewicz, Magdalena;
    • McGuire, Marianne;
    • Grange, Dorothy K.;
    • Andrews, Marisa V.;
    • Hummel, Marybeth
    Publication type:
    Article
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    Post-mortem molecular profiling of three psychiatric disorders.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0458-5
    By:
    • Ramaker, Ryne C.;
    • Bowling, Kevin M.;
    • Lasseigne, Brittany N.;
    • Hagenauer, Megan H.;
    • Hardigan, Andrew A.;
    • Davis, Nicholas S.;
    • Gertz, Jason;
    • Cartagena, Preston M.;
    • Walsh, David M.;
    • Vawter, Marquis P.;
    • Jones, Edward G.;
    • Schatzberg, Alan F.;
    • Barchas, Jack D.;
    • Watson, Stanley J.;
    • Bunney, Blynn G.;
    • Akil, Huda;
    • Bunney, William E.;
    • Li, Jun Z.;
    • Cooper, Sara J.;
    • Myers, Richard M.
    Publication type:
    Article
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