Detalhe da pesquisa
1.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
2.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
3.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
4.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Genet Med
; 23(5): 856-864, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500567
5.
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Genet Med
; 21(1): 133-143, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29892087
6.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Am J Hum Genet
; 104(1): 187-190, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609406
7.
Sex Differences in the Clinical Presentation and Natural History of Dilated Cardiomyopathy.
JACC Heart Fail
; 12(2): 352-363, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38032570
8.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066232
9.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066275
10.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872640
11.
Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.
Postgrad Med J
; 88(1038): 234-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22441235
12.
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Eur Heart J
; 32(9): 1065-76, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21459883
13.
Noncompaction Cardiomyopathy, Sick Sinus Disease, and Aortic Dilatation: Too Much for a Single Diagnosis?
JACC Case Rep
; 4(5): 287-293, 2022 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257104
14.
Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy.
Heart
; 108(8): 619-625, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380661
15.
Direct and indirect effect of the COVID-19 pandemic on patients with cardiomyopathy.
Open Heart
; 9(1)2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35086919
16.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Nat Commun
; 11(1): 2523, 2020 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461616
17.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
J Am Coll Cardiol
; 76(2): 186-197, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646569
18.
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Nat Commun
; 12(1): 839, 2021 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531501
19.
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Sci Transl Med
; 7(270): 270ra6, 2015 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589632
20.
ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure.
Circ Cardiovasc Genet
; 8(5): 643-52, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26175529