Detalhe da pesquisa
1.
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
2.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983221
3.
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
4.
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
5.
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
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.
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
8.
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
HGG Adv
; 5(2): 100270, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38219013
9.
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Eur J Hum Genet
; 31(9): 1003-1009, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443332
10.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196587
11.
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
12.
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
13.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631351
14.
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
Eur J Hum Genet
; 28(11): 1486-1496, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686758
15.
Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 13(3): e002783, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163302
16.
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.
Eur J Hum Genet
; 27(11): 1639-1648, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186546
17.
A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Circ Genom Precis Med
; 17(1): e004134, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258577
18.
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Genome Med
; 11(1): 46, 2019 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345272
19.
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Genome Med
; 11(1): 5, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696458
20.
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing.
Circ Genom Precis Med
; 15(6): e003958, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36441539