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Page 1
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JA, Cunningham F, Flannick J, Gabriel SB, Altshuler DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O'Regan DP, San TR, de Marvao A, Dawes TJ, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O'Donnell CJ, Prasad SK, Barton PJ, Fatkin D, Hubner N, Seidman JG, Seidman CE, Cook SA. Roberts AM, et al. Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134. Sci Transl Med. 2015. PMID: 25589632 Free PMC article.
ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.
Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, Mazzarotto F, Pesce F, Buchan R, Isaacson RL, Vouffo J, Gunkel S, Knöll G, McSweeney SJ, Wei H, Perrot A, Pfeiffer C, Toliat MR, Ilieva K, Krysztofinska E, López-Olañeta MM, Gómez-Salinero JM, Schmidt A, Ng KE, Teucher N, Chen J, Teichmann M, Eilers M, Haverkamp W, Regitz-Zagrosek V, Hasenfuss G, Braun T, Pennell DJ, Gould I, Barton PJ, Lara-Pezzi E, Schäfer S, Hübner N, Felkin LE, O'Regan DP, Brand T, Milting H, Nürnberg P, Schneider MD, Prasad S, Petretto E, Knöll R. Buyandelger B, et al. Among authors: roberts am. Circ Cardiovasc Genet. 2015 Oct;8(5):643-52. doi: 10.1161/CIRCGENETICS.113.000690. Epub 2015 Jul 14. Circ Cardiovasc Genet. 2015. PMID: 26175529 Free article.
Phenotype and Clinical Outcomes of Titin Cardiomyopathy.
Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SA. Tayal U, et al. J Am Coll Cardiol. 2017 Oct 31;70(18):2264-2274. doi: 10.1016/j.jacc.2017.08.063. J Am Coll Cardiol. 2017. PMID: 29073955 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: roberts am, roberts a. 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.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Whiffin N, Roberts AM, Minikel E, Zappala Z, Walsh R, O'Donnell-Luria AH, Karczewski KJ, Harrison SM, Thomson KL, Sage H, Ing AY, Barton PJR, Funke B, Cook SA, MacArthur DG, Ware JS. Whiffin N, et al. Among authors: roberts am. Am J Hum Genet. 2019 Jan 3;104(1):187-190. doi: 10.1016/j.ajhg.2018.11.012. Am J Hum Genet. 2019. PMID: 30609406 Free PMC article. No abstract available.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes TJW, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AY, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan DP, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R. Mazzarotto F, et al. Among authors: roberts am. Circulation. 2020 Feb 4;141(5):387-398. doi: 10.1161/CIRCULATIONAHA.119.037661. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983221 Free PMC article.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cook SA, Barton PJR, MacArthur DG, Ware JS. Whiffin N, et al. Among authors: roberts am. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Nat Commun. 2020. PMID: 32461616 Free PMC article.
217 results