Zobrazeno 1 - 10
of 85
pro vyhledávání: '"James P, Pirruccello"'
Autor:
James P. Pirruccello, Paolo Di Achille, Seung Hoan Choi, Joel T. Rämö, Shaan Khurshid, Mahan Nekoui, Sean J. Jurgens, Victor Nauffal, Shinwan Kany, FinnGen, Kenney Ng, Samuel F. Friedman, Puneet Batra, Kathryn L. Lunetta, Aarno Palotie, Anthony A. Philippakis, Jennifer E. Ho, Steven A. Lubitz, Patrick T. Ellinor
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunit
Externí odkaz:
https://doaj.org/article/28dcb362d1d747399f72a9d9686b4b32
Autor:
Erik Schoenmakers, Federica Marelli, Helle F. Jørgensen, W. Edward Visser, Carla Moran, Stefan Groeneweg, Carolina Avalos, Sean J. Jurgens, Nichola Figg, Alison Finigan, Neha Wali, Maura Agostini, Hannah Wardle-Jones, Greta Lyons, Rosemary Rusk, Deepa Gopalan, Philip Twiss, Jacob J. Visser, Martin Goddard, Samer A. M. Nashef, Robin Heijmen, Paul Clift, Sanjay Sinha, James P. Pirruccello, Patrick T. Ellinor, Elisabeth M. Busch-Nentwich, Ramiro Ramirez-Solis, Michael P. Murphy, Luca Persani, Martin Bennett, Krishna Chatterjee
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Abstract Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of selenocysteine-containing proteins due to selenocysteine Ins
Externí odkaz:
https://doaj.org/article/9890b834ab67406cacc92d0ad7bdebb8
Autor:
Shaan Khurshid, Julieta Lazarte, James P. Pirruccello, Lu-Chen Weng, Seung Hoan Choi, Amelia W. Hall, Xin Wang, Samuel F. Friedman, Victor Nauffal, Kiran J. Biddinger, Krishna G. Aragam, Puneet Batra, Jennifer E. Ho, Anthony A. Philippakis, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
A genome-wide association study of cardiac magnetic resonance-derived left ventricular mass index including 43,000 UK Biobank participants reveals 12 associations (11 novel), implicating genes involved in cardiac contractility and cardiomyopathy.
Externí odkaz:
https://doaj.org/article/1a8e275a72c04f6d9ede2ed763e2d9bc
Autor:
Shaan Khurshid, Lu-Chen Weng, Victor Nauffal, James P. Pirruccello, Rachael A. Venn, Mostafa A. Al-Alusi, Emelia J. Benjamin, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
npj Digital Medicine, Vol 5, Iss 1, Pp 1-10 (2022)
Abstract Physical activity is regarded as favorable to health but effects across the spectrum of human disease are poorly quantified. In contrast to self-reported measures, wearable accelerometers can provide more precise and reproducible activity qu
Externí odkaz:
https://doaj.org/article/43708d4228014988804ccb8c78b39aff
Autor:
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome I. Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Accurate classification of genetic variants is critical for research and patient care. Here, the authors report that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide support for va
Externí odkaz:
https://doaj.org/article/816988c3c3b240bbb3a8c919e46440d7
Autor:
Shaan Khurshid, MD, Samuel Freesun Friedman, PhD, James P. Pirruccello, MD, Paolo Di Achille, PhD, Nathaniel Diamant, BS, Christopher D. Anderson, MD, MMSc, Patrick T. Ellinor, MD, PhD, Puneet Batra, PhD, Jennifer E. Ho, MD, Anthony A. Philippakis, MD, PhD, Steven A. Lubitz, MD, MPH
Publikováno v:
Cardiovascular Digital Health Journal, Vol 2, Iss 2, Pp 109-117 (2021)
Background: Cardiac magnetic resonance (CMR) is the gold standard for left ventricular hypertrophy (LVH) diagnosis. CMR-derived LV mass can be estimated using proprietary algorithms (eg, InlineVF), but their accuracy and availability may be limited.
Externí odkaz:
https://doaj.org/article/e162652169234f2e8c8a1c9cf568888c
Autor:
Pradeep Natarajan, Akhil Pampana, Sarah E. Graham, Sanni E. Ruotsalainen, James A. Perry, Paul S. de Vries, Jai G. Broome, James P. Pirruccello, Michael C. Honigberg, Krishna Aragam, Brooke Wolford, Jennifer A. Brody, Lucinda Antonacci-Fulton, Moscati Arden, Stella Aslibekyan, Themistocles L. Assimes, Christie M. Ballantyne, Lawrence F. Bielak, Joshua C. Bis, Brian E. Cade, Ron Do, Harsha Doddapaneni, Leslie S. Emery, Yi-Jen Hung, Marguerite R. Irvin, Alyna T. Khan, Leslie Lange, Jiwon Lee, Rozenn N. Lemaitre, Lisa W. Martin, Ginger Metcalf, May E. Montasser, Jee-Young Moon, Donna Muzny, Jeffrey R. O’Connell, Nicholette D. Palmer, Juan M. Peralta, Patricia A. Peyser, Adrienne M. Stilp, Michael Tsai, Fei Fei Wang, Daniel E. Weeks, Lisa R. Yanek, James G. Wilson, Goncalo Abecasis, Donna K. Arnett, Lewis C. Becker, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yi-Cheng Chang, Yii-Der I. Chen, Won Jung Choi, Adolfo Correa, Joanne E. Curran, Mark J. Daly, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Barry I. Freedman, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Jiang He, Kristian Hveem, Gail P. Jarvik, Robert C. Kaplan, Sharon L. R. Kardia, Eimear Kenny, Ryan W. Kim, Charles Kooperberg, Cathy C. Laurie, Seonwook Lee, Don M. Lloyd-Jones, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Karine A. Viaud Martinez, Stephen T. McGarvey, Braxton D. Mitchell, Deborah A. Nickerson, Kari E. North, Aarno Palotie, Cheol Joo Park, Bruce M. Psaty, D. C. Rao, Susan Redline, Alexander P. Reiner, Daekwan Seo, Jeong-Sun Seo, Albert V. Smith, Russell P. Tracy, Ramachandran S. Vasan, Sekar Kathiresan, L. Adrienne Cupples, Jerome I. Rotter, Alanna C. Morrison, Stephen S. Rich, Samuli Ripatti, Cristen Willer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, FinnGen, Gina M. Peloso
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the
Externí odkaz:
https://doaj.org/article/09cb57a2d8544b5e803b374995f412e4
Autor:
Kiran J. Biddinger, James P. Pirruccello, Shaan Khurshid, Pradeep Natarajan, Jennifer E. Ho, Steven A. Lubitz, Patrick T. Ellinor, Krishna G. Aragam
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 8 (2022)
Externí odkaz:
https://doaj.org/article/7c4186137fe8418caf324a85c719b8b5
Autor:
James P. Pirruccello, Alexander Bick, Minxian Wang, Mark Chaffin, Samuel Friedman, Jie Yao, Xiuqing Guo, Bharath Ambale Venkatesh, Kent D. Taylor, Wendy S. Post, Stephen Rich, Joao A. C. Lima, Jerome I. Rotter, Anthony Philippakis, Steven A. Lubitz, Patrick T. Ellinor, Amit V. Khera, Sekar Kathiresan, Krishna G. Aragam
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-10 (2020)
Structural changes to the left ventricle are characteristic of dilated cardiomyopathy (DCM), a disease for which many rare genetic variants are known. Here, Pirruccello et al. report GWAS of seven cardiac MRI measurements in the left ventricle and de
Externí odkaz:
https://doaj.org/article/bb4e68aedf3c4014874c9837a0e34e34
Autor:
Mary E. Haas, James P. Pirruccello, Samuel N. Friedman, Minxian Wang, Connor A. Emdin, Veeral H. Ajmera, Tracey G. Simon, Julian R. Homburger, Xiuqing Guo, Matthew Budoff, Kathleen E. Corey, Alicia Y. Zhou, Anthony Philippakis, Patrick T. Ellinor, Rohit Loomba, Puneet Batra, Amit V. Khera
Publikováno v:
Cell Genomics, Vol 1, Iss 3, Pp 100066- (2021)
Summary: Excess liver fat, called hepatic steatosis, is a leading risk factor for end-stage liver disease and cardiometabolic diseases but often remains undiagnosed in clinical practice because of the need for direct imaging assessments. We developed
Externí odkaz:
https://doaj.org/article/ce0ff6a4ad504e1ea29d8ed0ca8dce9a