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Diane Fatkin
Diane Fatkin
在 victorchang.edu.au 的电子邮件经过验证
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引用次数
引用次数
年份
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
D Fatkin, C MacRae, T Sasaki, MR Wolff, M Porcu, M Frenneaux, ...
New England Journal of Medicine 341 (23), 1715-1724, 1999
15831999
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
D Taliun, DN Harris, MD Kessler, J Carlson, ZA Szpiech, R Torres, ...
Nature 590 (7845), 290-299, 2021
13872021
Relations between left atrial appendage blood flow velocity, spontaneous echocardiographic contrast and thromboembolic risk in vivo
D Fatkin, RP Kelly, MP Feneley
Journal of the American College of Cardiology 23 (4), 961-969, 1994
9601994
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes
SG Priori, AA Wilde, M Horie, Y Cho, ER Behr, C Berul, N Blom, ...
Europace 15 (10), 1389-1406, 2013
7972013
Multi-ethnic genome-wide association study for atrial fibrillation
C Roselli, MD Chaffin, LC Weng, S Aeschbacher, G Ahlberg, CM Albert, ...
Nature genetics 50 (9), 1225-1233, 2018
6142018
Transesophageal echocardiography before and during direct current cardioversion of atrial fibrillation: evidence for “atrial stunning” as a mechanism of thromboembolic …
D Fatkin, DL Kuchar, CW Thorburn, MP Feneley
Journal of the American College of Cardiology 23 (2), 307-316, 1994
5831994
Molecular mechanisms of inherited cardiomyopathies
D Fatkin, RM Graham
Physiological reviews 82 (4), 945-980, 2002
4952002
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C–deficient mice
V Nikolova, C Leimena, AC McMahon, JC Tan, S Chandar, D Jogia, ...
The Journal of clinical investigation 113 (3), 357-369, 2004
4682004
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ...
Science translational medicine 7 (270), 270ra6-270ra6, 2015
4562015
Exclusion of atrial thrombus by transesophageal echocardiography does not preclude embolism after cardioversion of atrial fibrillation. A multicenter study.
IW Black, D Fatkin, KB Sagar, BK Khandheria, DY Leung, JM Galloway, ...
Circulation 89 (6), 2509-2513, 1994
4471994
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy
EP Kirk, M Sunde, MW Costa, SA Rankin, O Wolstein, ML Castro, ...
The American Journal of Human Genetics 81 (2), 280-291, 2007
4182007
A saturated map of common genetic variants associated with human height
L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell, S Sakaue, ...
Nature 610 (7933), 704-712, 2022
3462022
Cardiac homeobox gene NKX2-5mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome
DA Elliott, EP Kirk, T Yeoh, S Chandar, F McKenzie, P Taylor, P Grossfeld, ...
Journal of the American College of Cardiology 41 (11), 2072-2076, 2003
3122003
Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice
BK McConnell, KA Jones, D Fatkin, LH Arroyo, RT Lee, O Aristizabal, ...
The Journal of clinical investigation 104 (9), 1235-1244, 1999
3081999
Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation
FA Stennard, MW Costa, D Lai, C Biben, MB Furtado, MJ Solloway, ...
Oxford University Press for The Company of Biologists Limited 132 (10), 2451 …, 2005
2762005
An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy
D Fatkin, BK McConnell, JO Mudd, C Semsarian, IGP Moskowitz, ...
The Journal of clinical investigation 106 (11), 1351-1359, 2000
2762000
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
DB Sparrow, G Chapman, MA Wouters, NV Whittock, S Ellard, D Fatkin, ...
The American Journal of Human Genetics 78 (1), 28-37, 2006
2672006
Cardiomyopathy in Irx4-Deficient Mice Is Preceded by Abnormal Ventricular Gene Expression
BG Bruneau, ZZ Bao, D Fatkin, J Xavier-Neto, D Georgakopoulos, ...
Molecular and cellular biology 21 (5), 1730-1736, 2001
2062001
Analysis of protein sequence and interaction data for candidate disease gene prediction
RA George, JY Liu, LL Feng, RJ Bryson-Richardson, D Fatkin, ...
Nucleic acids research 34 (19), e130-e130, 2006
1872006
Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection
D Adlam, TM Olson, N Combaret, JC Kovacic, SE Iismaa, A Al-Hussaini, ...
Journal of the American College of Cardiology 73 (1), 58-66, 2019
1862019
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