Found: 5

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  • 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

  • Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

    Published in:
    Science Translational Medicine, 2019, v. 11, n. 476, p. N.PAG, doi. 10.1126/scitranslmed.aat1199
    By:
    • Toepfer, Christopher N.;
    • Wakimoto, Hiroko;
    • Garfinkel, Amanda C.;
    • McDonough, Barbara;
    • Liao, Dan;
    • Jiang, Jianming;
    • Tai, Angela C.;
    • Gorham, Joshua M.;
    • Lunde, Ida G.;
    • Lun, Mingyue;
    • Lynch IV, Thomas L.;
    • McNamara, James W.;
    • Sadayappan, Sakthivel;
    • Redwood, Charles S.;
    • Watkins, Hugh C.;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.
    Publication type:
    Article

  • Association between Multiple Myeloma and Ulcerative Colitis: A Cross-Sectional Analysis.

    Published in:
    Diseases, 2023, v. 11, n. 2, p. 59, doi. 10.3390/diseases11020059
    By:
    • Bangolo, Ayrton;
    • Sagireddy, Sowmya;
    • Desrochers, Paul;
    • Laabidi, Imane;
    • Nagesh, Vignesh K.;
    • Jarri, Amer;
    • Sekhon, Imranjot;
    • Laabidi, Youssef;
    • Muralidhar, Deeksha;
    • Singh, Adarshpreet;
    • Sanjeeva, Paranjyothy R. P.;
    • Sandhu, Damanpartap S.;
    • Salma, Saba;
    • Khan, Saad A.;
    • Ali, Mir I.;
    • Kim, Sung H.;
    • Bajwa, Wardah;
    • Tai, Angela C.;
    • Itani, Assma;
    • Ahmed, Kareem
    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

  • 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