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33 results

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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: watkins hc. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.
Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M, Lynch TL 4th, McNamara JW, Sadayappan S, Redwood CS, Watkins HC, Seidman JG, Seidman CE. Toepfer CN, et al. Among authors: watkins hc. Sci Transl Med. 2019 Jan 23;11(476):eaat1199. doi: 10.1126/scitranslmed.aat1199. Sci Transl Med. 2019. PMID: 30674652 Free PMC article.
Exercise Capacity in Patients With Obstructive Hypertrophic Cardiomyopathy: SEQUOIA-HCM Baseline Characteristics and Study Design.
Coats CJ, Maron MS, Abraham TP, Olivotto I, Lee MMY, Arad M, Cardim N, Ma CS, Choudhury L, Düngen HD, Garcia-Pavia P, Hagège AA, Lewis GD, Michels M, Oreziak A, Owens AT, Tfelt-Hansen J, Veselka J, Watkins HC, Heitner SB, Jacoby DL, Kupfer S, Malik FI, Meng L, Wohltman A, Masri A; SEQUOIA-HCM Investigators. Coats CJ, et al. Among authors: watkins hc. JACC Heart Fail. 2024 Jan;12(1):199-215. doi: 10.1016/j.jchf.2023.10.004. Epub 2023 Nov 29. JACC Heart Fail. 2024. PMID: 38032573 Free article. Review.
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE. Toepfer CN, et al. Among authors: watkins hc. Circulation. 2020 Mar 10;141(10):828-842. doi: 10.1161/CIRCULATIONAHA.119.042339. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983222 Free PMC article.
Aficamten for Drug-Refractory Severe Obstructive Hypertrophic Cardiomyopathy in Patients Receiving Disopyramide: REDWOOD-HCM Cohort 3.
Owens AT, Masri A, Abraham TP, Choudhury L, Rader F, Symanski JD, Turer AT, Wong TC, Tower-Rader A, Coats CJ, Fifer MA, Olivotto I, Solomon SD, Watkins HC, Heitner SB, Jacoby DL, Kupfer S, Malik FI, Meng L, Sohn R, Wohltman A, Maron MS; REDWOOD-HCM INVESTIGATORS. Owens AT, et al. Among authors: watkins hc. J Card Fail. 2023 Nov;29(11):1576-1582. doi: 10.1016/j.cardfail.2023.07.003. Epub 2023 Jul 18. J Card Fail. 2023. PMID: 37473912 Free article. No abstract available.
Impact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy: Results From SEQUOIA-HCM.
Maron MS, Masri A, Nassif ME, Barriales-Villa R, Abraham TP, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Kulac I, Lee MMY, Lewis GD, Ma CS, Michels M, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins HC, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Olivotto I; SEQUOIA-HCM Investigators. Maron MS, et al. Among authors: watkins hc. J Am Coll Cardiol. 2024 Nov 5;84(19):1821-1831. doi: 10.1016/j.jacc.2024.09.003. Epub 2024 Sep 30. J Am Coll Cardiol. 2024. PMID: 39352339 Free article. Clinical Trial.
Deep forecasting of translational impact in medical research.
Nelson APK, Gray RJ, Ruffle JK, Watkins HC, Herron D, Sorros N, Mikhailov D, Cardoso MJ, Ourselin S, McNally N, Williams B, Rees GE, Nachev P. Nelson APK, et al. Among authors: watkins hc. Patterns (N Y). 2022 Apr 8;3(5):100483. doi: 10.1016/j.patter.2022.100483. eCollection 2022 May 13. Patterns (N Y). 2022. PMID: 35607619 Free PMC article.
CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes.
Psaras Y, Margara F, Cicconet M, Sparrow AJ, Repetti GG, Schmid M, Steeples V, Wilcox JAL, Bueno-Orovio A, Redwood CS, Watkins HC, Robinson P, Rodriguez B, Seidman JG, Seidman CE, Toepfer CN. Psaras Y, et al. Among authors: watkins hc. Circ Res. 2021 Jul 9;129(2):326-341. doi: 10.1161/CIRCRESAHA.121.318868. Epub 2021 May 21. Circ Res. 2021. PMID: 34018815 Free PMC article.
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.
Aung N, Lopes LR, van Duijvenboden S, Harper AR, Goel A, Grace C, Ho CY, Weintraub WS, Kramer CM, Neubauer S, Watkins HC, Petersen SE, Munroe PB. Aung N, et al. Among authors: watkins hc. Circ Genom Precis Med. 2023 Feb;16(1):e003716. doi: 10.1161/CIRCGEN.122.003716. Epub 2023 Jan 4. Circ Genom Precis Med. 2023. PMID: 36598836 Free PMC article.
33 results