8 items matching your search terms.
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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
- Hoorntje, E. T.; Burns, C.; Marsili, L.; Corden, B.; Parikh, V. N.; Te Meerman, G. J.; Gray, B.; Adiyaman, A.; Bagnall, R. D.; Barge-Schaapveld, Dqcm; van den Berg, M. P.; Bootsma, M.; Bosman, L. P.; Correnti, G.; Duflou, J.; Eppinga, R. N.; Fatkin, D.; Fietz, M.; Haan, E.; Jongbloed, J. D. H.; Hauer, A. D.; Lam, L.; van Lint, F. H. M.; Lota, A.; Marcelis, C.; McCarthy, H. J.; van Mil, A. M.; Oldenburg, R. A.; Pachter, N.; Planken, R. N.; Reuter, C.; Semsarian, C.; van der Smagt, J. J.; Thompson, T.; Vohra, J.; Volders, P. G. A.; van Waning, J. I.; Whiffin, N.; van den Wijngaard, A.; Amin, A. S.; Wilde, A. A. M.; van Woerden, G.; Yeates, L.; Zentner, D.; Ashley, E. A.; Wheeler, M. T.; Ware, J. S.; van Tintelen, J. P.; Ingles, J.
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Circulation. Genomic and Precision Medicine
16
(1)
:e003672,
2023
10.1161/CIRCGEN.121.003672
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Genetic Basis of Childhood Cardiomyopathy
- Bagnall, R. D.; Singer, E. S.; Wacker, J.; Nowak, N.; Ingles, J.; King, I.; Macciocca, I.; Crowe, J.; Ronan, A.; Weintraub, R. G.; Semsarian, C.
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Circulation. Genomic and Precision Medicine
15
(6)
:e003686,
2022
10.1161/CIRCGEN.121.003686
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The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic
- Stafford, F.; Krishnan, N.; Richardson, E.; Butters, A.; Hespe, S.; Burns, C.; Gray, B.; Medi, C.; Nowak, N.; Isbister, J. C.; Raju, H.; Richmond, D.; Ryan, M. P.; Singer, E. S.; Sy, R. W.; Yeates, L.; Bagnall, R. D.; Semsarian, C.; Ingles, J.
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Genome Medicine
14
(1)
:145,
2022
10.1186/s13073-022-01149-0
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome
- Ellingford, J. M.; Ahn, J. W.; Bagnall, R. D.; Baralle, D.; Barton, S.; Campbell, C.; Downes, K.; Ellard, S.; Duff-Farrier, C.; FitzPatrick, D. R.; Greally, J. M.; Ingles, J.; Krishnan, N.; Lord, J.; Martin, H. C.; Newman, W. G.; O'Donnell-Luria, A.; Ramsden, S. C.; Rehm, H. L.; Richardson, E.; Singer-Berk, M.; Taylor, J. C.; Williams, M.; Wood, J. C.; Wright, C. F.; Harrison, S. M.; Whiffin, N.
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Genome Medicine
14
(1)
:73,
2022
10.1186/s13073-022-01073-3
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The Need for Inclusive Genomic Research
- Krishnan, N.; Ingles, J.
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Circulation. Genomic and Precision Medicine
15
(2)
:e003736,
2022
10.1161/CIRCGEN.122.003736
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Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment
- Butters, A.; Lakdawala, N. K.; Ingles, J.
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Current Heart Failure Reports
18
(5)
:264-273,
2021
10.1007/s11897-021-00526-x
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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
- Minoche, A. E.; Horvat, C.; Johnson, R.; Gayevskiy, V.; Morton, S. U.; Drew, A. P.; Woo, K.; Statham, A. L.; Lundie, B.; Bagnall, R. D.; Ingles, J.; Semsarian, C.; Seidman, J. G.; Seidman, C. E.; Dinger, M. E.; Cowley, M. J.; Fatkin, D.
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GENETICS IN MEDICINE
21
(3)
:650-662,
2019
10.1038/s41436-018-0084-7
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Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
- Bagnall, R. D.; Ingles, J.; Dinger, M. E.; Cowley, M. J.; Ross, S. B.; Minoche, A. E.; Lal, S.; Turner, C.; Colley, A.; Rajagopalan, S.; Berman, Y.; Ronan, A.; Fatkin, D.; Semsarian, C.
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
72
(4)
:419-429,
2018
10.1016/j.jacc.2018.04.078
