Megan J Roy-Puckelwartz

  • 1031 Citations
20092024

Research output per year

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Personal profile

Education/Academic qualification

PhD, The University of Chicago

… → 2009

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Grants

  • Research Output

    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

    the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Association of cardiomyopathy with MYBPC3 D389V and MYBPC3 Δ25bp intronic deletion in south asian descendants

    Viswanathan, S. K., Roy-Puckelwartz, M. J., Mehta, A., Ramachandra, C. J. A., Jagadeesan, A., Fritsche-Danielson, R., Bhat, R. V., Wong, P., Kandoi, S., Schwanekamp, J. A., Kuffel, G., Pesce, L. L., Zilliox, M. J., Durai, U. N. B., Verma, R. S., Molokie, R. E., Suresh, D. P., Khoury, P. R., Thomas, A., Sanagala, T. & 6 others, Tang, H. C., Becker, R. C., Knoll, R., Shim, W., McNally, E. M. & Sadayappan, S., Jun 1 2018, In : JAMA cardiology. 3, 6, p. 481-488 8 p.

    Research output: Contribution to journalArticle

  • 7 Scopus citations

    Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

    Wyatt, E. J., Demonbreun, A. R., Kim, E. Y., Puckelwartz, M. J., Vo, A. H., Dellefave-Castillo, L. M., Gao, Q. Q., Vainzof, M., Pavanello, R. C. M., Zatz, M. & McNally, E. M., May 3 2018, In : JCI Insight. 3, 9

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations

    Modeling Human Dilated Cardiomyopathy Using Humans

    Gacita, A. M., Roy-Puckelwartz, M. J. & McNally, E. M., Dec 1 2018, In : JACC: Basic to Translational Science. 3, 6, p. 741-743 3 p.

    Research output: Contribution to journalEditorial

    1 Scopus citations

    Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness

    Levy, Y., Ross, J. A., Niglas, M., Snetkov, V. A., Lynham, S., Liao, C. Y., Puckelwartz, M. J., Hsu, Y. M., McNally, E. M., Alsheimer, M., Harridge, S. D., Young, S. G., Fong, L. G., Español, Y., Lopez-Otin, C., Kennedy, B. K., Lowe, D. A. & Ochala, J., Oct 4 2018, In : JCI Insight. 3, 19

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations