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
em Inglês
| MEDLINE | ID: mdl-37652022
2.
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Am J Hum Genet
; 109(7): 1199-1207, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688147
3.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med
; 26(3): 101051, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131308
4.
An integrative review of the impact of allied health student placements on current staff's knowledge and procedural skills in acute and primary care settings.
BMC Med Educ
; 24(1): 657, 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38867188
5.
Correlation between small-scale methylation changes and gene expression during the development of myopia.
FASEB J
; 36(1): e22129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958689
6.
Evaluating allied health students' readiness for placement learning.
BMC Med Educ
; 23(1): 70, 2023 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709272
7.
Transcriptome-based insights into gene networks controlling myopia prevention.
FASEB J
; 35(9): e21846, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405458
8.
Mood and Anxiety Symptoms in Persons Taking Prescription Opioids: A Systematic Review with Meta-Analyses of Longitudinal Studies.
Pain Med
; 23(8): 1442-1456, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35167694
9.
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy.
J Med Genet
; 58(8): 556-564, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732227
10.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
11.
Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.
J Cardiovasc Magn Reson
; 23(1): 109, 2021 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34635131
12.
Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification.
Curr Cardiol Rep
; 23(2): 9, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433738
13.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
14.
Topical application of dopaminergic compounds can inhibit deprivation myopia in chicks.
Exp Eye Res
; 200: 108233, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919992
15.
Genetic Testing in Inherited Heart Diseases.
Heart Lung Circ
; 29(4): 505-511, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813745
16.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med
; 21(7): 1576-1584, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531895
17.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
18.
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Eur Heart J
; 38(46): 3461-3468, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082330
19.
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
20.
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Genet Med
; 19(2): 192-203, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27532257