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.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
3.
Additional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives.
Genet Med
; 26(6): 101103, 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411041
4.
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
5.
Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.
Clin Genet
; 104(1): 3-21, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994636
6.
Right ventricular function declines prior to left ventricular ejection fraction in hypertrophic cardiomyopathy.
J Cardiovasc Magn Reson
; 24(1): 36, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35692049
7.
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
8.
Taking it to the bank: the ethical management of individual findings arising in secondary research.
J Med Ethics
; 47(10): 689-696, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33441306
9.
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
10.
"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
Genet Med
; 20(3): 320-328, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261176
11.
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Genet Med
; 19(3): 283-293, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27584911
12.
Genomic sequencing in oncology: Considerations for integration in routine cancer care.
Eur J Cancer Care (Engl)
; 31(3): e13584, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383404
13.
Exploring the potential duty of care in clinical genomics under UK law.
Med Law Int
; 17(3): 158-182, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28943725
14.
A practical checklist for return of results from genomic research in the European context.
Eur J Hum Genet
; 31(6): 687-695, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949262
15.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
medRxiv
; 2023 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778260
16.
Genomic health data generation in the UK: a 360 view.
Eur J Hum Genet
; 30(7): 782-789, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663916
17.
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Circ Genom Precis Med
; 15(1): e003589, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949103
18.
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Nat Genet
; 53(2): 135-142, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495597
19.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Nat Commun
; 12(1): 1626, 2021 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33712616
20.
Maximal Wall Thickness Measurement in Hypertrophic Cardiomyopathy: Biomarker Variability and its Impact on Clinical Care.
JACC Cardiovasc Imaging
; 14(11): 2123-2134, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34147459