Paul J R Barton
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Explore the profile of Paul J R Barton including associated specialties, affiliations and a list of published articles.
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86
Citations
3711
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Recent Articles
11.
Reichart D, Lindberg E, Maatz H, Miranda A, Viveiros A, Shvetsov N, et al.
Science
. 2022 Aug;
377(6606):eabo1984.
PMID: 35926050
Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) convey high risks for the development of heart failure through unknown mechanisms. Using single-nucleus RNA sequencing, we...
12.
Tayal U, Verdonschot J, Hazebroek M, Howard J, Gregson J, Newsome S, et al.
J Am Coll Cardiol
. 2022 Jun;
79(22):2219-2232.
PMID: 35654493
Background: Dilated cardiomyopathy (DCM) is a final common manifestation of heterogenous etiologies. Adverse outcomes highlight the need for disease stratification beyond ejection fraction. Objectives: The purpose of this study was...
13.
de Marvao A, McGurk K, Zheng S, Thanaj M, Bai W, Duan J, et al.
J Am Coll Cardiol
. 2021 Sep;
78(11):1097-1110.
PMID: 34503678
Background: Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population. Objectives: The goal...
14.
Patel P, Ito K, Willcox J, Haghighi A, Jang M, Gorham J, et al.
Circ Genom Precis Med
. 2021 Aug;
14(5):e003389.
PMID: 34461741
Background: Heterozygous truncating variants cause 10% to 20% of idiopathic dilated cardiomyopathy (DCM). Although variants which disrupt canonical splice signals (ie, invariant dinucleotide of the splice donor site, invariant dinucleotide...
15.
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy
Aguib Y, Allouba M, Walsh R, Ibrahim A, Halawa S, Afify A, et al.
Circulation
. 2021 Aug;
144(9):754-757.
PMID: 34460321
No abstract available.
16.
Wright C, Quaife N, Ramos-Hernandez L, Danecek P, Ferla M, Samocha K, et al.
Am J Hum Genet
. 2021 May;
108(6):1083-1094.
PMID: 34022131
Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare...
17.
Whiffin N, Karczewski K, Zhang X, Chothani S, Smith M, Evans D, et al.
Nat Commun
. 2021 Feb;
12(1):839.
PMID: 33531501
No abstract available.
18.
Mazzarotto F, Hawley M, Beltrami M, Beekman L, de Marvao A, McGurk K, et al.
Genet Med
. 2021 Jan;
23(5):856-864.
PMID: 33500567
Purpose: To characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate the extent to which it may represent a distinct pathology or a secondary phenotype associated with other...
19.
Tadros R, Francis C, Xu X, Vermeer A, Harper A, Huurman R, et al.
Nat Genet
. 2021 Jan;
53(2):128-134.
PMID: 33495596
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and...
20.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, et al.
Genet Med
. 2020 Oct;
23(1):69-79.
PMID: 33046849
Purpose: Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene-disease...