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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: mcdonough b. Sci Transl Med. 2019 Jan 23;11(476):eaat1199. doi: 10.1126/scitranslmed.aat1199. Sci Transl Med. 2019. PMID: 30674652 Free PMC article.
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B. Fatkin D, et al. Among authors: mcdonough b. N Engl J Med. 1999 Dec 2;341(23):1715-24. doi: 10.1056/NEJM199912023412302. N Engl J Med. 1999. PMID: 10580070 Free article.
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Kamisago M, et al. Among authors: mcdonough b. N Engl J Med. 2000 Dec 7;343(23):1688-96. doi: 10.1056/NEJM200012073432304. N Engl J Med. 2000. PMID: 11106718 Free article.
Molecular epidemiology of hypertrophic cardiomyopathy.
Morita H, DePalma SR, Arad M, McDonough B, Barr S, Duffy C, Maron BJ, Seidman CE, Seidman JG. Morita H, et al. Among authors: mcdonough b. Cold Spring Harb Symp Quant Biol. 2002;67:383-8. doi: 10.1101/sqb.2002.67.383. Cold Spring Harb Symp Quant Biol. 2002. PMID: 12858563 No abstract available.
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy.
Roberts AE, Hult B, Rehm HL, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman JG, Kucherlapati RS. Roberts AE, et al. Among authors: mcdonough b. Am J Med Genet A. 2005 Jan 30;132A(3):333-4. doi: 10.1002/ajmg.a.30405. Am J Med Genet A. 2005. PMID: 15578621 No abstract available.
Novel locus for an inherited cardiomyopathy maps to chromosome 7.
Song L, DePalma SR, Kharlap M, Zenovich AG, Cirino A, Mitchell R, McDonough B, Maron BJ, Seidman CE, Seidman JG, Ho CY. Song L, et al. Among authors: mcdonough b. Circulation. 2006 May 9;113(18):2186-92. doi: 10.1161/CIRCULATIONAHA.106.615658. Epub 2006 May 1. Circulation. 2006. PMID: 16651466
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: mcdonough b. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262. N Engl J Med. 2007. PMID: 17314340 Free article.
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