Found: 6

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  • Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009189
    By:
    • Martin-Trujillo, Alejandro;
    • Patel, Nihir;
    • Richter, Felix;
    • Jadhav, Bharati;
    • Garg, Paras;
    • Morton, Sarah U.;
    • McKean, David M.;
    • DePalma, Steven R.;
    • Goldmuntz, Elizabeth;
    • Gruber, Dorota;
    • Kim, Richard;
    • Newburger, Jane W.;
    • Porter, George A.;
    • Giardini, Alessandro;
    • Bernstein, Daniel;
    • Tristani-Firouzi, Martin;
    • Seidman, Jonathan G.;
    • Seidman, Christine E.;
    • Chung, Wendy K.;
    • Gelb, Bruce D.
    Publication type:
    Article

  • Loss of RNA expression and allele-specific expression associated with congenital heart disease.

    Published in:
    Nature Communications, 2016, v. 7, n. 9, p. 12824, doi. 10.1038/ncomms12824
    By:
    • McKean, David M.;
    • Homsy, Jason;
    • Wakimoto, Hiroko;
    • Patel, Neil;
    • Gorham, Joshua;
    • DePalma, Steven R.;
    • Ware, James S.;
    • Zaidi, Samir;
    • Ma, Wenji;
    • Patel, Nihir;
    • Lifton, Richard P.;
    • Chung, Wendy K.;
    • Kim, Richard;
    • Shen, Yufeng;
    • Brueckner, Martina;
    • Goldmuntz, Elizabeth;
    • Sharp, Andrew J.;
    • Seidman, Christine E.;
    • Gelb, Bruce D.;
    • Seidman, J. G.
    Publication type:
    Article

  • Semi-supervised prediction of gene regulatory networks using machine learning algorithms.

    Published in:
    Journal of Biosciences, 2015, v. 40, n. 4, p. 731, doi. 10.1007/s12038-015-9558-9
    By:
    • Patel, Nihir;
    • Wang, Jason
    Publication type:
    Article

  • Identification of rare de novo epigenetic variations in congenital disorders.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04540-x
    By:
    • Joshi, Ricky S.;
    • Garg, Paras;
    • Martin-Trujillo, Alejandro;
    • Patel, Nihir;
    • Jadhav, Bharati;
    • Watson, Corey T.;
    • Gibson, William;
    • Tessereau, Chloe;
    • Gelb, Bruce D.;
    • Sharp, Andrew J.;
    • Barbosa, Mafalda;
    • Buxbaum, Joseph D.;
    • Grice, Dorothy E.;
    • Soares, Gabriela;
    • De Rubeis, Silvia;
    • Reichert, Jennifer;
    • Chetnik, Kelsey;
    • Edelmann, Lisa;
    • Hui Mei;
    • Lopes, Fatima
    Publication type:
    Article

  • Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing.

    Published in:
    Human Mutation, 2020, v. 41, n. 4, p. 800, doi. 10.1002/humu.23971
    By:
    • Seiden, Allison H.;
    • Richter, Felix;
    • Patel, Nihir;
    • Rodriguez, Oscar L.;
    • Deikus, Gintaras;
    • Shah, Hardik;
    • Smith, Melissa;
    • Roberts, Amy;
    • King, Eileen C.;
    • Sebra, Robert P.;
    • Sharp, Andrew J.;
    • 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