JAMA Cardiology
Brief Report
January 13, 2021
Sadiya S. Khan, MD, MS; Sanjiv J. Shah, MD; Jennifer L. Strande, MD, PhD; Abigail S. Baldridge, MS; Panagiotis Flevaris, MD, PhD; Megan J. Puckelwartz, PhD; Elizabeth M. McNally, MD, PhD; Laura J. Rasmussen-Torvik, PhD, MPH; Daniel C. Lee, MD; James C. Carr, MD; Brandon C. Benefield, MS; Muhammad Zeeshan Afzal, PhD; Meadow Heiman, MS; Sweta Gupta, MD, MS; Amy D. Shapiro, MD; Douglas E. Vaughan, MD
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JAMA Cardiol. 2021; 6(7):841-846. 10.1001/jamacardio.2020.6909
This multimodality study reports a detailed cardiovascular phenotyping and genotyping in young adults from an Amish family with a frameshift variant (c.699_700dupTA) in SERPINE1, the gene that codes for plasminogen activator inhibitor-1.
JAMA Cardiology
Brief Report
December 23, 2020
Arjun Sinha, MD; Yinan Zheng, PhD; Drew Nannini, PhD; Yishu Qu, MPH; Lifang Hou, MD, PhD; Sanjiv J. Shah, MD; Clyde W. Yancy, MD; Elizabeth M. McNally, MD, PhD; Myriam Fornage, PhD; Joao Lima, MD; Donald M. Lloyd-Jones, MD; Laura J. Rasmussen-Torvik, PhD; Sadiya S. Khan, MD, MS
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JAMA Cardiol. 2020; 6(6):718-722. 10.1001/jamacardio.2020.6623
This cross-sectional study of Black participants in the Coronary Artery Risk Development in Young Adults cohort examines the association between the V122I TTR genetic variant and cardiac structure and function in middle age in those without heart failure.
JAMA
Original Investigation
January 16, 2018
Orna Reges, PhD; Philip Greenland, MD; Dror Dicker, MD; Morton Leibowitz, MD; Moshe Hoshen, PhD; Ilan Gofer; Laura J. Rasmussen-Torvik, PhD; Ran D. Balicer, MD
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JAMA. 2018; 319(3):279-290. 10.1001/jama.2017.20513
This cohort study uses Israeli electronic health record data to compare mortality of obese adult patients who underwent bariatric surgery (laparoscopic banding, Roux-en-Y gastric bypass, or laparoscopic sleeve gastrectomy) vs obese adults receiving nonsurgical usual care management.
JAMA
Original Investigation
January 5, 2016
Sara L. Van Driest, MD, PhD; Quinn S. Wells, MD, PharmD, MSCI; Sarah Stallings, PhD; William S. Bush, PhD, MS; Adam Gordon, PhD; Deborah A. Nickerson, PhD; Jerry H. Kim, MD; David R. Crosslin, PhD; Gail P. Jarvik, MD, PhD; David S. Carrell, PhD; James D. Ralston, MD, MPH; Eric B. Larson, MD, MPH; Suzette J. Bielinski, PhD; Janet E. Olson, PhD; Zi Ye, MD, PhD; Iftikhar J. Kullo, MD; Noura S. Abul-Husn, MD, PhD; Stuart A. Scott, PhD; Erwin Bottinger, MD; Berta Almoguera, PhD; John Connolly, PhD; Rosetta Chiavacci, BSN, CCRC; Hakon Hakonarson, MD, PhD; Laura J. Rasmussen-Torvik, PhD, MPH; Vivian Pan, MS, CGC; Stephen D. Persell, MD, MPH; Maureen Smith, MS, CGC; Rex L. Chisholm, PhD; Terrie E. Kitchner, CCRP; Max M. He, PhD; Murray H. Brilliant, PhD; John R. Wallace, MS; Kimberly F. Doheny, PhD; M. Benjamin Shoemaker, MD, MCSI; Rongling Li, MD, PhD, MPH; Teri A. Manolio, MD, PhD; Thomas E. Callis, PhD; Daniela Macaya, MQC; Marc S. Williams, MD; David Carey, PhD; Jamie D. Kapplinger, BA; Michael J. Ackerman, MD, PhD; Marylyn D. Ritchie, PhD; Joshua C. Denny, MD, MS; Dan M. Roden, MD
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JAMA. 2016; 315(1):47-57. 10.1001/jama.2015.17701
This prospective cohort study investigates the association of rare, potentially pathogenic variants in 2 cardiac arrhythmia susceptibility genes with arrhythmia and electrocardiographic phenotypes using electronic medical record data.