Search details
1.
Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.
Europace
; 25(11)2023 11 02.
Article
in English
| MEDLINE | ID: mdl-37897496
2.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Article
in English
| MEDLINE | ID: mdl-34557911
3.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32581083
4.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
; 141(6): 418-428, 2020 02 11.
Article
in English
| MEDLINE | ID: mdl-31983240
5.
Year 1: Experiences of a tertiary cancer centre following implementation of reflex BRCA1 and BRCA2 tumor testing for all high-grade serous ovarian cancers in a universal healthcare system.
Gynecol Oncol
; 158(3): 747-753, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32674931
6.
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.
Article
in English
| MEDLINE | ID: mdl-29959160
7.
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
Am J Med Genet A
; 173(3): 699-705, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28211974
8.
Evaluation of Prolonged QT Interval: Structural Heart Disease Mimicking Long QT Syndrome.
Pacing Clin Electrophysiol
; 40(4): 417-424, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28155223
9.
Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians.
Curr Cardiol Rep
; 19(9): 88, 2017 08 16.
Article
in English
| MEDLINE | ID: mdl-28812208
10.
Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.
Eur Heart J
; 35(39): 2706-13, 2014 Oct 14.
Article
in English
| MEDLINE | ID: mdl-24810389
11.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Article
in English
| MEDLINE | ID: mdl-21055719
12.
Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations.
Radiology
; 269(1): 68-76, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23771913
13.
Assessment of Severity of Long QT Syndrome Phenotype and Risk of Fetal Death.
J Am Heart Assoc
; 12(23): e029407, 2023 12 05.
Article
in English
| MEDLINE | ID: mdl-38014677
14.
Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy.
Radiol Cardiothorac Imaging
; 5(6): e230155, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38166344
15.
Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.
Front Oncol
; 13: 1153082, 2023.
Article
in English
| MEDLINE | ID: mdl-37434984
16.
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.
Article
in English
| MEDLINE | ID: mdl-37066275
17.
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.
Article
in English
| MEDLINE | ID: mdl-37872640
18.
Genetic testing for dilated cardiomyopathy in clinical practice.
J Card Fail
; 18(4): 296-303, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22464770
19.
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
Circ Res
; 106(9): 1549-52, 2010 May 14.
Article
in English
| MEDLINE | ID: mdl-20378854
20.
Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy.
Echocardiography
; 29(7): 810-7, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22497597