Found: 3

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  • EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

    Published in:
    Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00738-1
    By:
    • Hsieh, Alexander;
    • Morton, Sarah U.;
    • Willcox, Jon A. L.;
    • Gorham, Joshua M.;
    • Tai, Angela C.;
    • Qi, Hongjian;
    • DePalma, Steven;
    • McKean, David;
    • Griffin, Emily;
    • Manheimer, Kathryn B.;
    • Bernstein, Daniel;
    • Kim, Richard W.;
    • Newburger, Jane W.;
    • Porter, George A.;
    • Srivastava, Deepak;
    • Tristani-Firouzi, Martin;
    • Brueckner, Martina;
    • Lifton, Richard P.;
    • Goldmuntz, Elizabeth;
    • Gelb, Bruce D.
    Publication type:
    Article

  • Robust identification of mosaic variants in congenital heart disease.

    Published in:
    Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
    By:
    • Manheimer, Kathryn B.;
    • Richter, Felix;
    • Edelmann, Lisa J.;
    • D'souza, Sunita L.;
    • Shi, Lisong;
    • Shen, Yufeng;
    • Homsy, Jason;
    • Boskovski, Marko T.;
    • Tai, Angela C.;
    • Gorham, Joshua;
    • Yasso, Christopher;
    • Goldmuntz, Elizabeth;
    • Brueckner, Martina;
    • Lifton, Richard P.;
    • Chung, Wendy K.;
    • Seidman, Christine E.;
    • Seidman, J. G.;
    • Gelb, Bruce D.
    Publication type:
    Article

  • Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

    Published in:
    Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
    By:
    • Manheimer, Kathryn B.;
    • Patel, Nihir;
    • Richter, Felix;
    • Gorham, Joshua;
    • Tai, Angela C.;
    • Homsy, Jason;
    • Boskovski, Marko T.;
    • Parfenov, Michael;
    • Goldmuntz, Elizabeth;
    • Chung, Wendy K.;
    • Brueckner, Martina;
    • Tristani-Firouzi, Martin;
    • Srivastava, Deepak;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.
    Publication type:
    Article