Found: 17

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  • Normalization of drug and therapeutic concepts with Thera-Py.

    Published in:
    JAMIA Open, 2023, v. 6, n. 4, p. 1, doi. 10.1093/jamiaopen/ooad093
    By:
    • Cannon, Matthew;
    • Stevenson, James;
    • Kuzma, Kori;
    • Kiwala, Susanna;
    • Warner, Jeremy L;
    • Griffith, Obi L;
    • Griffith, Malachi;
    • Wagner, Alex H
    Publication type:
    Article

  • DGIdb 3.0: a redesign and expansion of the drug–gene interaction database.

    Published in:
    Nucleic Acids Research, 2018, v. 46, n. D1, p. D1068, doi. 10.1093/nar/gkx1143
    By:
    • Cotto, Kelsy C;
    • Wagner, Alex H;
    • Feng, Yang-Yang;
    • Kiwala, Susanna;
    • Coffman, Adam C;
    • Spies, Gregory;
    • Wollam, Alex;
    • Spies, Nicholas C;
    • Griffith, Obi L;
    • Griffith, Malachi
    Publication type:
    Article

  • DGIdb 2.0: mining clinically relevant drug-gene interactions.

    Published in:
    Nucleic Acids Research, 2016, v. 44, n. 1, p. D1036, doi. 10.1093/nar/gkv1165
    By:
    • Wagner, Alex H.;
    • Coffman, Adam C.;
    • Ainscough, Benjamin J.;
    • Spies, Nicholas C.;
    • Skidmore, Zachary L.;
    • Campbell, Katie M.;
    • Krysiak, Kilannin;
    • Deng Pan;
    • McMichael, Joshua F.;
    • Eldred, James M.;
    • Walker, Jason R.;
    • Wilson, Richard K.;
    • Mardis, Elaine R.;
    • Griffith, Malachi;
    • Griffith, Obi L.
    Publication type:
    Article

  • Whole-gene sequencing investigation of SAT1 in attempted suicide.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 888, doi. 10.1002/ajmg.b.32462
    By:
    • Monson, Eric T.;
    • de Klerk, Kelly;
    • Gaynor, Sophia C.;
    • Wagner, Alex H.;
    • Breen, Marie E.;
    • Parsons, Meredith;
    • Casavant, Thomas L.;
    • Zandi, Peter P.;
    • Potash, James B.;
    • Willour, Virginia L.
    Publication type:
    Article

  • Phenopacket-tools: Building and validating GA4GH Phenopackets.

    Published in:
    PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285433
    By:
    • Danis, Daniel;
    • Jacobsen, Julius O. B.;
    • Wagner, Alex H.;
    • Groza, Tudor;
    • Beckwith, Martha A.;
    • Rekerle, Lauren;
    • Carmody, Leigh C.;
    • Reese, Justin;
    • Hegde, Harshad;
    • Ladewig, Markus S.;
    • Seitz, Berthold;
    • Munoz-Torres, Monica;
    • Harris, Nomi L.;
    • Rambla, Jordi;
    • Baudis, Michael;
    • Mungall, Christopher J.;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article

  • Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.

    Published in:
    Bioinformatics, 2022, v. 38, n. 23, p. 5279, doi. 10.1093/bioinformatics/btac646
    By:
    • Zhao, Yiqing;
    • Brush, Matthew;
    • Wang, Chen;
    • Wagner, Alex H;
    • Liu, Hongfang;
    • Freimuth, Robert R
    Publication type:
    Article

  • GA4GH Phenopackets: A Practical Introduction.

    Published in:
    Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200016
    By:
    • Ladewig, Markus S.;
    • Jacobsen, Julius O. B.;
    • Wagner, Alex H.;
    • Danis, Daniel;
    • El Kassaby, Baha;
    • Gargano, Michael;
    • Groza, Tudor;
    • Baudis, Michael;
    • Steinhaus, Robin;
    • Seelow, Dominik;
    • Bechrakis, Nikolaos E.;
    • Mungall, Christopher J.;
    • Schofield, Paul N.;
    • Elemento, Olivier;
    • Smith, Lindsay;
    • McMurry, Julie A.;
    • Munoz‐Torres, Monica;
    • Haendel, Melissa A.;
    • Robinson, Peter N.
    Publication type:
    Article

  • Minimum information and guidelines for reporting a multiplexed assay of variant effect.

    Published in:
    Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03223-9
    By:
    • Claussnitzer, Melina;
    • Parikh, Victoria N.;
    • Wagner, Alex H.;
    • Arbesfeld, Jeremy A.;
    • Bult, Carol J.;
    • Firth, Helen V.;
    • Muffley, Lara A.;
    • Nguyen Ba, Alex N.;
    • Riehle, Kevin;
    • Roth, Frederick P.;
    • Tabet, Daniel;
    • Bolognesi, Benedetta;
    • Glazer, Andrew M.;
    • Rubin, Alan F.
    Publication type:
    Article

  • Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367
    By:
    • Braun, Terry A.;
    • Mullins, Robert F.;
    • Wagner, Alex H.;
    • Andorf, Jeaneen L.;
    • Johnston, Rebecca M.;
    • Bakall, Benjamin B.;
    • Deluca, Adam P.;
    • Fishman, Gerald A.;
    • Lam, Byron L.;
    • Weleber, Richard G.;
    • Cideciyan, Artur V.;
    • Jacobson, Samuel G.;
    • Sheffield, Val C.;
    • Tucker, Budd A.;
    • Stone, Edwin M.
    Publication type:
    Article

  • Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing.

    Published in:
    2022
    By:
    • Neumann, Olaf;
    • Burn, Timothy C.;
    • Allgäuer, Michael;
    • Ball, Markus;
    • Kirchner, Martina;
    • Albrecht, Thomas;
    • Volckmar, Anna-Lena;
    • Beck, Susanne;
    • Endris, Volker;
    • Goldschmid, Hannah;
    • Lehmann, Ulrich;
    • Seker-Cin, Huriye;
    • Uhrig, Sebastian;
    • Roessler, Stephanie;
    • Budczies, Jan;
    • Fröhling, Stefan;
    • Longerich, Thomas;
    • Wagner, Alex H.;
    • Vogel, Arndt;
    • Schirmacher, Peter
    Publication type:
    journal article

  • DGIdb 5.0: rebuilding the drug–gene interaction database for precision medicine and drug discovery platforms.

    Published in:
    Nucleic Acids Research, 2024, v. 52, n. D1, p. D1227, doi. 10.1093/nar/gkad1040
    By:
    • Cannon, Matthew;
    • Stevenson, James;
    • Stahl, Kathryn;
    • Basu, Rohit;
    • Coffman, Adam;
    • Kiwala, Susanna;
    • McMichael, Joshua F;
    • Kuzma, Kori;
    • Morrissey, Dorian;
    • Cotto, Kelsy;
    • Mardis, Elaine R;
    • Griffith, Obi L;
    • Griffith, Malachi;
    • Wagner, Alex H
    Publication type:
    Article

  • Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06162-9
    By:
    • Wagner, Alex H.;
    • Devarakonda, Siddhartha;
    • Skidmore, Zachary L.;
    • Krysiak, Kilannin;
    • Ramu, Avinash;
    • Trani, Lee;
    • Kunisaki, Jason;
    • Masood, Ashiq;
    • Waqar, Saiama N.;
    • Spies, Nicholas C.;
    • Morgensztern, Daniel;
    • Waligorski, Jason;
    • Ponce, Jennifer;
    • Fulton, Robert S.;
    • Maggi, Leonard B.;
    • Weber, Jason D.;
    • Watson, Mark A.;
    • O’Conor, Christopher J.;
    • Ritter, Jon H.;
    • Olsen, Rachelle R.
    Publication type:
    Article

  • Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice.

    Published in:
    Molecular Neurodegeneration, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1326-9-14
    By:
    • Sharma, Tasneem P.;
    • McDowell, Colleen M.;
    • Yang Liu;
    • Wagner, Alex H.;
    • Thole, David;
    • Faga, Benjamin P.;
    • Wordinger, Robert J.;
    • Braun, Terry A.;
    • Clark, Abbot F.
    Publication type:
    Article

  • Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1721, doi. 10.1002/humu.23651
    By:
    • Danos, Arpad M.;
    • Ritter, Deborah I.;
    • Wagner, Alex H.;
    • Krysiak, Kilannin;
    • Sonkin, Dmitriy;
    • Micheel, Christine;
    • McCoy, Matthew;
    • Rao, Shruti;
    • Raca, Gordana;
    • Boca, Simina M.;
    • Roy, Angshumoy;
    • Barnell, Erica K.;
    • McMichael, Joshua F.;
    • Kiwala, Susanna;
    • Coffman, Adam C.;
    • Kujan, Lynzey;
    • Kulkarni, Shashikant;
    • Griffith, Malachi;
    • Madhavan, Subha;
    • Griffith, Obi L.
    Publication type:
    Article

  • Prioritization of Retinal Disease Genes: An Integrative Approach.

    Published in:
    Human Mutation, 2013, v. 34, n. 6, p. 853, doi. 10.1002/humu.22317
    By:
    • Wagner, Alex H.;
    • Taylor, Kyle R.;
    • DeLuca, Adam P.;
    • Casavant, Thomas L.;
    • Mullins, Robert F.;
    • Stone, Edwin M.;
    • Scheetz, Todd E.;
    • Braun, Terry A.
    Publication type:
    Article

  • GenVisR: Genomic Visualizations in R.

    Published in:
    Bioinformatics, 2016, v. 32, n. 19, p. 3012, doi. 10.1093/bioinformatics/btw325
    By:
    • Skidmore, Zachary L.;
    • Wagner, Alex H.;
    • Lesurf, Robert;
    • Campbell, Katie M.;
    • Kunisaki, Jason;
    • Griffith, Obi L.;
    • Griffith, Malachi
    Publication type:
    Article

  • Standard operating procedure for curation and clinical interpretation of variants in cancer.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0687-x
    By:
    • Danos, Arpad M.;
    • Krysiak, Kilannin;
    • Barnell, Erica K.;
    • Coffman, Adam C.;
    • McMichael, Joshua F.;
    • Kiwala, Susanna;
    • Spies, Nicholas C.;
    • Sheta, Lana M.;
    • Pema, Shahil P.;
    • Kujan, Lynzey;
    • Clark, Kaitlin A.;
    • Wollam, Amber Z.;
    • Rao, Shruti;
    • Ritter, Deborah I.;
    • Sonkin, Dmitriy;
    • Raca, Gordana;
    • Lin, Wan-Hsin;
    • Grisdale, Cameron J.;
    • Kim, Raymond H.;
    • Wagner, Alex H.
    Publication type:
    Article