Detalhe da pesquisa
1.
Use of Artificial Intelligence in Improving Outcomes in Heart Disease: A Scientific Statement From the American Heart Association.
Circulation
; 149(14): e1028-e1050, 2024 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38415358
2.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
3.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757444
4.
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
JAMA
; 2024 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38900490
5.
Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.
Europace
; 25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897496
6.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557911
7.
Importance of genetic testing in unexplained cardiac arrest.
Eur Heart J
; 43(32): 3071-3081, 2022 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35352813
8.
Endocrinopathies mimicking gene negative long QT syndrome.
Cardiol Young
; 32(6): 1016-1018, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34814967
9.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
; 141(6): 418-428, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983240
10.
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Circulation
; 141(6): 429-439, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31941373
11.
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation
; 142(10): 932-947, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693635
12.
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.
Am J Med Genet A
; 185(11): 3433-3445, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415104
13.
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Circulation
; 138(12): 1195-1205, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959160
14.
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; : 101142, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38819344
15.
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100866, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37347242
16.
Response to McGurk et al.
Genet Med
; 24(3): 747-748, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906521
17.
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(7): 1407-1414, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802134
18.
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Europace
; 24(8): 1307-1367, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373836
19.
Evaluation of Prolonged QT Interval: Structural Heart Disease Mimicking Long QT Syndrome.
Pacing Clin Electrophysiol
; 40(4): 417-424, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28155223
20.
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1381-1390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012068