Megan J Roy-Puckelwartz

  • 981 Citations
20092024
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Personal profile

Education/Academic qualification

PhD, University of Chicago

… → 2009

Fingerprint Dive into the research topics where Megan J Roy-Puckelwartz is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 8 Similar Profiles
Cardiomyopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Lamin Type A Medicine & Life Sciences
Nuclear Envelope Medicine & Life Sciences
Genes Medicine & Life Sciences
Dilated Cardiomyopathy Medicine & Life Sciences
Genetic Testing Medicine & Life Sciences
Emery-Dreifuss Muscular Dystrophy Medicine & Life Sciences

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Grants 2014 2024

Cardiomyopathies
Genome
Mutation
Heart Failure
Genes
Cardiomyopathies
Mutation
Hypertrophic Cardiomyopathy
Heart Failure
Dilated Cardiomyopathy
Channelopathies
Sudden Death
Cardiomyopathies
Human Genome
Genetic Predisposition to Disease
Sudden Death
Human Genome
Genetic Predisposition to Disease
Registries
Young Adult

Research Output 2009 2019

1 Citation (Scopus)

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

Genetic Testing
Clinical Decision Support Systems
Precision Medicine
Gene Targeting
Information Dissemination
5 Citations (Scopus)

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

Cardiomyopathies
Cardiac Myocytes
Genotype
Phenotype
Induced Pluripotent Stem Cells
2 Citations (Scopus)

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
Morpholinos
Exons
Reading Frames
Mutation
Sarcoglycans
1 Citation (Scopus)

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

Induced Pluripotent Stem Cells
Dilated Cardiomyopathy
Cardiomyopathies
Cardiac Myocytes
Heart Diseases
2 Citations (Scopus)

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
Muscle Weakness
Premature Aging
Muscles
Nuclear Envelope
Myosins