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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1985 1
1986 3
1987 1
1990 1
1992 2
1993 4
1994 3
1995 2
1996 2
1997 1
1998 1
1999 4
2000 6
2001 1
2002 5
2003 6
2004 8
2005 8
2006 6
2007 9
2008 11
2009 10
2010 6
2011 5
2012 16
2013 13
2014 12
2015 17
2016 15
2017 17
2018 19
2019 21
2020 28
2021 32
2022 30
2023 30
2024 23
2025 26
2026 8

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368 results

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Page 1
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Acke… See abstract for full author list ➔ Walsh R, et al. Among authors: makita n. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T; Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).. Wilde AAM, et al. Among authors: makita n. Europace. 2022 Sep 1;24(8):1307-1367. doi: 10.1093/europace/euac030. Europace. 2022. PMID: 35373836 Free PMC article. No abstract available.
Palopegteriparatide Treatment Improves Renal Function in Adults with Chronic Hypoparathyroidism: 1-Year Results from the Phase 3 PaTHway Trial.
Rejnmark L, Gosmanova EO, Khan AA, Makita N, Imanishi Y, Takeuchi Y, Sprague S, Shoback DM, Kohlmeier L, Rubin MR, Palermo A, Schwarz P, Gagnon C, Tsourdi E, Zhao C, Makara MA, Ominsky MS, Lai B, Ukena J, Sibley CT, Shu AD. Rejnmark L, et al. Among authors: makita n. Adv Ther. 2024 Jun;41(6):2500-2518. doi: 10.1007/s12325-024-02843-8. Epub 2024 Apr 30. Adv Ther. 2024. PMID: 38691316 Free PMC article. Clinical Trial.
Acquired Osteomalacia Associated with Autoantibodies against PHEX.
Hoshino Y, Okamoto K, Ogawa T, Kato H, Irie K, Watanabe S, Kimura S, Hidaka N, Kinoshita Y, Kobayashi H, Hagiwara D, Kogawa M, Takayanagi H, Tanaka S, Nangaku M, Makita N, Burbelo PD, Saito T, Ito N. Hoshino Y, et al. Among authors: makita n. N Engl J Med. 2025 Jan 30;392(5):513-515. doi: 10.1056/NEJMc2405746. N Engl J Med. 2025. PMID: 39879599 Free PMC article. No abstract available.
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.
Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T. Wilde AAM, et al. Among authors: makita n. Heart Rhythm. 2022 Jul;19(7):e1-e60. doi: 10.1016/j.hrthm.2022.03.1225. Epub 2022 Apr 4. Heart Rhythm. 2022. PMID: 35390533 Free article. No abstract available.
Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics.
Qaqorh T, Takahashi Y, Sameshima K, Otani K, Yazawa I, Nishida Y, Tonai K, Fujihara Y, Honda M, Oki S, Ohkawa Y, Thorburn DR, Frazier AE, Takeda A, Ikeda Y, Sakaguchi H, Watanabe T, Fukushima N, Tsukamoto Y, Makita N, Yamaguchi O, Murayama K, Ohtake A, Okazaki Y, Kimura T, Kato H, Inoue H, Matsuoka K, Takashima S, Shintani Y. Qaqorh T, et al. Among authors: makita n. Sci Adv. 2025 Apr 4;11(14):eadq1575. doi: 10.1126/sciadv.adq1575. Epub 2025 Apr 4. Sci Adv. 2025. PMID: 40184463 Free PMC article.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Baudic M, Murata H, Bosada FM, Melo US, Aizawa T, Lindenbaum P, van der Maarel LE, Guedon A, Baron E, Fremy E, Foucal A, Ishikawa T, Ushinohama H, Jurgens SJ, Choi SH, Kyndt F, Le Scouarnec S, Wakker V, Thollet A, Rajalu A, Takaki T, Ohno S, Shimizu W, Horie M, Kimura T, Ellinor PT, Petit F, Dulac Y, Bru P, Boland A, Deleuze JF, Redon R, Le Marec H, Le Tourneau T, Gourraud JB, Yoshida Y, Makita N, Vieyres C, Makiyama T, Mundlos S, Christoffels VM, Probst V, Schott JJ, Barc J. Baudic M, et al. Among authors: makita n. Nat Commun. 2024 Apr 20;15(1):3380. doi: 10.1038/s41467-024-47739-x. Nat Commun. 2024. PMID: 38643172 Free PMC article.
V2 vasopressin receptor mutations.
Makita N, Manaka K, Sato J, Iiri T. Makita N, et al. Vitam Horm. 2020;113:79-99. doi: 10.1016/bs.vh.2019.08.012. Epub 2019 Sep 13. Vitam Horm. 2020. PMID: 32138955 Review.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ. Crotti L, et al. Among authors: makita n. Eur Heart J. 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. Eur Heart J. 2023. PMID: 37528649 Free PMC article.
368 results