Detalhe da pesquisa
1.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Am J Hum Genet
; 110(9): 1482-1495, 2023 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37652022
2.
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Eur Heart J
; 44(48): 5146-5158, 2023 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37431535
3.
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
Circulation
; 146(15): 1123-1134, 2022 10 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36154167
4.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31983221
5.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Genet Med
; 23(1): 69-79, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33046849
6.
Predicting oligonucleotide therapeutic efficacy at the population level.
Hell J Nucl Med
; 22 Suppl 2: 182, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31802060
7.
New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.
Circulation
; 144(9): 754-757, 2021 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34460321
8.
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.
Eur J Heart Fail
; 26(1): 46-55, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37702310
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
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
Inglês
| MEDLINE | ID: mdl-37872640
11.
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 16(6): e004200, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38014537
12.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
medRxiv
; 2023 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36778260
13.
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Science
; 377(6606): eabo1984, 2022 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35926050
14.
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.
J Am Coll Cardiol
; 78(11): 1097-1110, 2021 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34503678
15.
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
NPJ Genom Med
; 5: 46, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33110626
16.
RACE-SEQ and Population-Wide Polymorphism Susceptibility Testing for Endonucleolytically Active, RNA-Targeting Therapeutics.
Methods Mol Biol
; 2036: 283-305, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31410804
17.
Profiling the Mismatch Tolerance of Argonaute 2 through Deep Sequencing of Sliced Polymorphic Viral RNAs.
Mol Ther Nucleic Acids
; 9: 22-33, 2017 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29246301