Grants per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
Human Genetics, PhD, University of Chicago
… → 2009
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Collaborations and top research areas from the last five years
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Role of Endothelin-1 signaling in the development and progression of atrial fibrillation
Pfenniger, A. (PD/PI), Pfenniger, A. (PD/PI), Pfenniger, A. (Co-PD/PI), Arora, R. K. (Other), George, A. L. (Other), George, A. L. (Other), Lee, D. C. (Other), Lee, D. C. (Other), Passman, R. S. (Other), Passman, R. S. (Other), Roy-Puckelwartz, M. J. (Other), Roy-Puckelwartz, M. J. (Other), Shah, S. J. (Other), Shah, S. J. (Other), Vaughan, D. E. (Other), Vaughan, D. E. (Other), Wasserstrom, J. A. (Other) & Wasserstrom, J. A. (Other)
National Heart, Lung, and Blood Institute
9/1/23 → 8/31/28
Project: Research project
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Investigating structural and genetic substrates of early-onset atrial fibrillation
Roy-Puckelwartz, M. J. (PD/PI), Gordon, A. S. (Co-Investigator) & Passman, R. S. (Co-Investigator)
Ann & Robert H. Lurie Children's Hospital of Chicago, National Heart, Lung, and Blood Institute
7/1/23 → 6/30/28
Project: Research project
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Unravelling the Role of Genome in Pediatric Long QT Syndrome variable expressivity
Mohamed, T. M. S. (PD/PI), Burridge, P. (Other), George, A. L. (Other), Roy-Puckelwartz, M. J. (Other), Stranger, B. E. (Other) & Webster, G. (Other)
7/1/21 → 7/31/22
Project: Research project
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Northwestern Genomic Risk Assessment and Management Program
Chisholm, R. L. (PD/PI), Chisholm, R. L. (PD/PI), McNally, E. M. (PD/PI), McNally, E. M. (PD/PI), Rasmussen-Torvik, L. J. (PD/PI), Rasmussen-Torvik, L. J. (PD/PI), Gordon, A. S. (Co-Investigator), Gordon, A. S. (Co-Investigator), Kho, A. N. (Co-Investigator), Kho, A. N. (Co-Investigator), Luo, Y. (Co-Investigator), Luo, Y. (Co-Investigator), Perera, M. (Co-Investigator), Perera, M. (Co-Investigator), Roy-Puckelwartz, M. J. (Co-Investigator), Roy-Puckelwartz, M. J. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scherr, C. E. L. (Co-Investigator), Scholtens, D. M. (Co-Investigator), Scholtens, D. M. (Co-Investigator), Smith, M. E. (Co-Investigator), Smith, M. E. (Co-Investigator), Starren, J. (Co-Investigator), Starren, J. (Co-Investigator), Walunas, T. L. (Co-Investigator), Walunas, T. L. (Co-Investigator), Wehbe, F. (Co-Investigator), Wehbe, F. (Co-Investigator), Aufox, S. A. (Other), Aufox, S. A. (Other), Hoell, C. (Other) & Hoell, C. (Other)
National Human Genome Research Institute
7/1/20 → 4/30/25
Project: Research project
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Subproject for Puckelwartz
Roy-Puckelwartz, M. J. (Subproject PI)
7/1/20 → 6/30/21
Project: Research project
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A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria
Telenson, A. M., Hsieh, R. R., Cowen, G. J., Sode, E. P., Kwon, J. M., Vo, A. H., Hadhazy, M., Page, P. G., Rao, N. R., Pesce, L., Demonbreun, A. R., Puckelwartz, M. J., Savas, J. N. & McNally, E. M., Mar 15 2025, In: FASEB Journal. 39, 5, e70423.Research output: Contribution to journal › Article › peer-review
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Genomic analysis of surgical patients to identify patients at risk for postoperative sepsis and surgical site infection
Ahmed, K. S., Christensen, M. A., Bonde, A., Wei, W. Q., Khan, A., Pacheco, J., Roy-Puckelwartz, M., McCarthy, R. J., Alam, H. B. & Sillesen, M., Mar 1 2025, In: Journal of Trauma and Acute Care Surgery. 98, 3, p. 385-392 8 p.Research output: Contribution to journal › Article › peer-review
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Risk factors affecting polygenic score performance across diverse cohorts
Regeneron Genetics Center & Penn Medicine BioBank, Jan 24 2025, In: eLife. 12Research output: Contribution to journal › Article › peer-review
Open Access -
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
the Global Parkinson's Genetics Program (GP2), Dec 2025, In: npj Parkinson's Disease. 11, 1, 58.Research output: Contribution to journal › Article › peer-review
Open Access -
Identification of Clinical Drivers of Left Atrial Enlargement Through Genomics of Left Atrial Size
Agrawal, V., Manouchehri, A., Vaitinadin, N. S., Shi, M., Bagheri, M., Gupta, D. K., Kullo, I. J., Luo, Y., Mcnally, E. M., Puckelwartz, M. J., Ferguson, J. F., Wells, Q. S. & Mosley, J. D., Jan 1 2024, In: Circulation: Heart Failure. 17, 1, p. E010557Research output: Contribution to journal › Article › peer-review
3 Scopus citations
Datasets
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
Puckelwartz, M. J. (Creator), Pesce, L. L. (Creator), Hernandez, E. J. (Creator), Webster, G. (Creator), Dellefave-Castillo, L. M. (Creator), Russell, M. W. (Creator), Geisler, S. S. (Creator), Kearns, S. D. (Creator), Karthik, F. (Creator), Etheridge, S. P. (Creator), Monroe, T. O. (Creator), Pottinger, T. D. (Creator), Kannankeril, P. J. (Creator), Shoemaker, M. B. (Creator), Fountain, D. (Creator), Roden, D. M. (Creator), Faulkner, M. (Creator), MacLeod, H. M. (Creator), Burns, K. M. (Creator), Yandell, M. (Creator), Tristani-Firouzi, M. (Creator), George, A. L. (Creator) & McNally, E. M. (Creator), figshare, 2024
DOI: 10.6084/m9.figshare.c.7029107, https://springernature.figshare.com/collections/The_impact_of_damaging_epilepsy_and_cardiac_genetic_variant_burden_in_sudden_death_in_the_young/7029107
Dataset