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Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy.
Patel PN, Ito K, Willcox JAL, Haghighi A, Jang MY, Gorham JM, DePalma SR, Lam L, McDonough B, Johnson R, Lakdawala NK, Roberts A, Barton PJR, Cook SA, Fatkin D, Seidman CE, Seidman JG. Patel PN, et al. Among authors: johnson r. Circ Genom Precis Med. 2021 Oct;14(5):e003389. doi: 10.1161/CIRCGEN.121.003389. Epub 2021 Aug 31. Circ Genom Precis Med. 2021. PMID: 34461741 Free PMC article. Clinical Trial.
Are Double Mutations Double Trouble?
Fatkin D, Johnson R. Fatkin D, et al. Among authors: johnson r. Circ Cardiovasc Genet. 2017 Apr;10(2):e001749. doi: 10.1161/CIRCGENETICS.117.001749. Circ Cardiovasc Genet. 2017. PMID: 28420667 No abstract available.
Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli C, Chaffin MD, Weng LC, Aeschbacher S, Ahlberg G, Albert CM, Almgren P, Alonso A, Anderson CD, Aragam KG, Arking DE, Barnard J, Bartz TM, Benjamin EJ, Bihlmeyer NA, Bis JC, Bloom HL, Boerwinkle E, Bottinger EB, Brody JA, Calkins H, Campbell A, Cappola TP, Carlquist J, Chasman DI, Chen LY, Chen YI, Choi EK, Choi SH, Christophersen IE, Chung MK, Cole JW, Conen D, Cook J, Crijns HJ, Cutler MJ, Damrauer SM, Daniels BR, Darbar D, Delgado G, Denny JC, Dichgans M, Dörr M, Dudink EA, Dudley SC, Esa N, Esko T, Eskola M, Fatkin D, Felix SB, Ford I, Franco OH, Geelhoed B, Grewal RP, Gudnason V, Guo X, Gupta N, Gustafsson S, Gutmann R, Hamsten A, Harris TB, Hayward C, Heckbert SR, Hernesniemi J, Hocking LJ, Hofman A, Horimoto ARVR, Huang J, Huang PL, Huffman J, Ingelsson E, Ipek EG, Ito K, Jimenez-Conde J, Johnson R, Jukema JW, Kääb S, Kähönen M, Kamatani Y, Kane JP, Kastrati A, Kathiresan S, Katschnig-Winter P, Kavousi M, Kessler T, Kietselaer BL, Kirchhof P, Kleber ME, Knight S, Krieger JE, Kubo M, Launer LJ, Laurikka J, Lehtimäki T, Leineweber K, Lemaitre RN, Li M, Lim HE, Lin HJ, Lin H, Lind L, Lindgren CM, Lokki ML, London B, Loos RJF, Low SK, Lu Y, Lyytikäinen LP, Macfarl… See abstract for full author list ➔ Roselli C, et al. Among authors: johnson r. Nat Genet. 2018 Jun 11;50(9):1225-1233. doi: 10.1038/s41588-018-0133-9. Nat Genet. 2018. PMID: 29892015 Free PMC article.
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Horvat C, Johnson R, Lam L, Munro J, Mazzarotto F, Roberts AM, Herman DS, Parfenov M, Haghighi A, McDonough B, DePalma SR, Keogh AM, Macdonald PS, Hayward CS, Roberts A, Barton PJR, Felkin LE, Giannoulatou E, Cook SA, Seidman JG, Seidman CE, Fatkin D. Horvat C, et al. Among authors: johnson r. Genet Med. 2019 Jan;21(1):133-143. doi: 10.1038/s41436-018-0036-2. Epub 2018 Jun 11. Genet Med. 2019. PMID: 29892087 Free PMC article.
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D. Minoche AE, et al. Among authors: johnson r. Genet Med. 2019 Mar;21(3):650-662. doi: 10.1038/s41436-018-0084-7. Epub 2018 Jul 2. Genet Med. 2019. PMID: 29961767 Free PMC article.
Response to Brodehl et al.
Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D. Minoche AE, et al. Among authors: johnson r. Genet Med. 2019 May;21(5):1248-1249. doi: 10.1038/s41436-018-0292-1. Epub 2018 Sep 28. Genet Med. 2019. PMID: 30262924 Free article. No abstract available.
A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance.
Huttner IG, Wang LW, Santiago CF, Horvat C, Johnson R, Cheng D, von Frieling-Salewsky M, Hillcoat K, Bemand TJ, Trivedi G, Braet F, Hesselson D, Alford K, Hayward CS, Seidman JG, Seidman CE, Feneley MP, Linke WA, Fatkin D. Huttner IG, et al. Among authors: johnson r. Circ Genom Precis Med. 2018 Aug;11(8):e002135. doi: 10.1161/CIRCGEN.118.002135. Circ Genom Precis Med. 2018. PMID: 30354343
Genetics of atrial cardiomyopathy.
Fatkin D, Huttner IG, Johnson R. Fatkin D, et al. Among authors: johnson r. Curr Opin Cardiol. 2019 May;34(3):275-281. doi: 10.1097/HCO.0000000000000610. Curr Opin Cardiol. 2019. PMID: 30672791
Familial Dilated Cardiomyopathy.
Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D. Peters S, et al. Among authors: johnson r. Heart Lung Circ. 2020 Apr;29(4):566-574. doi: 10.1016/j.hlc.2019.11.018. Epub 2019 Dec 17. Heart Lung Circ. 2020. PMID: 31974027 Review.
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