Found: 7

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  • ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0123-6
    By:
    • Merico, Daniele;
    • Spickett, Carl;
    • O'Hara, Matthew;
    • Kakaradov, Boyko;
    • Deshwar, Amit G.;
    • Fradkin, Phil;
    • Gandhi, Shreshth;
    • Gao, Jiexin;
    • Grant, Solomon;
    • Kron, Ken;
    • Schmitges, Frank W.;
    • Shalev, Zvi;
    • Sun, Mark;
    • Verby, Marta;
    • Cahill, Matthew;
    • Dowling, James J.;
    • Fransson, Johan;
    • Wienholds, Erno;
    • Frey, Brendan J.
    Publication type:
    Article

  • Mapping DNA damage-dependent genetic interactions in yeast via party mating and barcode fusion genetics.

    Published in:
    Molecular Systems Biology, 2018, v. 14, n. 5, p. 1, doi. 10.15252/msb.20177985
    By:
    • Díaz‐Mejía, J Javier;
    • Celaj, Albi;
    • Mellor, Joseph C;
    • Coté, Atina;
    • Balint, Attila;
    • Ho, Brandon;
    • Bansal, Pritpal;
    • Shaeri, Fatemeh;
    • Gebbia, Marinella;
    • Weile, Jochen;
    • Verby, Marta;
    • Karkhanina, Anna;
    • Zhang, YiFan;
    • Wong, Cassandra;
    • Rich, Justin;
    • Prendergast, D'Arcy;
    • Gupta, Gaurav;
    • Öztürk, Sedide;
    • Durocher, Daniel;
    • Brown, Grant W
    Publication type:
    Article

  • A framework for exhaustively mapping functional missense variants.

    Published in:
    Molecular Systems Biology, 2017, v. 13, n. 12, p. 1, doi. 10.15252/msb.20177908
    By:
    • Weile, Jochen;
    • Sun, Song;
    • Cote, Atina G;
    • Knapp, Jennifer;
    • Verby, Marta;
    • Mellor, Joseph C;
    • Wu, Yingzhou;
    • Pons, Carles;
    • Wong, Cassandra;
    • Lieshout, Natascha;
    • Yang, Fan;
    • Tasan, Murat;
    • Tan, Guihong;
    • Yang, Shan;
    • Fowler, Douglas M;
    • Nussbaum, Robert;
    • Bloom, Jesse D;
    • Vidal, Marc;
    • Hill, David E;
    • Aloy, Patrick
    Publication type:
    Article

  • Pooled-matrix protein interaction screens using Barcode Fusion Genetics.

    Published in:
    Molecular Systems Biology, 2016, v. 12, n. 4, p. n/a, doi. 10.15252/msb.20156660
    By:
    • Yachie, Nozomu;
    • Petsalaki, Evangelia;
    • Mellor, Joseph C;
    • Weile, Jochen;
    • Jacob, Yves;
    • Verby, Marta;
    • Ozturk, Sedide B;
    • Li, Siyang;
    • Cote, Atina G;
    • Mosca, Roberto;
    • Knapp, Jennifer J;
    • Ko, Minjeong;
    • Yu, Analyn;
    • Gebbia, Marinella;
    • Sahni, Nidhi;
    • Yi, Song;
    • Tyagi, Tanya;
    • Sheykhkarimli, Dayag;
    • Roth, Jonathan F;
    • Wong, Cassandra
    Publication type:
    Article

  • Assessing predictions on fitness effects of missense variants in calmodulin.

    Published in:
    Human Mutation, 2019, v. 40, n. 9, p. 1463, doi. 10.1002/humu.23857
    By:
    • Zhang, Jing;
    • Kinch, Lisa N.;
    • Cong, Qian;
    • Katsonis, Panagiotis;
    • Lichtarge, Olivier;
    • Savojardo, Castrense;
    • Babbi, Giulia;
    • Martelli, Pier Luigi;
    • Capriotti, Emidio;
    • Casadio, Rita;
    • Garg, Aditi;
    • Pal, Debnath;
    • Weile, Jochen;
    • Sun, Song;
    • Verby, Marta;
    • Roth, Frederick P.;
    • Grishin, Nick V.
    Publication type:
    Article

  • A web application and service for imputing and visualizing missense variant effect maps.

    Published in:
    Bioinformatics, 2019, v. 35, n. 17, p. 3191, doi. 10.1093/bioinformatics/btz012
    By:
    • Wu, Yingzhou;
    • Weile, Jochen;
    • Cote, Atina G;
    • Sun, Song;
    • Knapp, Jennifer;
    • Verby, Marta;
    • Roth, Frederick P
    Publication type:
    Article

  • A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

    Published in:
    Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-0711-1
    By:
    • Sun, Song;
    • Weile, Jochen;
    • Verby, Marta;
    • Wu, Yingzhou;
    • Wang, Yang;
    • Cote, Atina G.;
    • Fotiadou, Iosifina;
    • Kitaygorodsky, Julia;
    • Vidal, Marc;
    • Rine, Jasper;
    • Ješina, Pavel;
    • Kožich, Viktor;
    • Roth, Frederick P.
    Publication type:
    Article