Detalhe da pesquisa
1.
Addressing underrepresentation in genomics research through community engagement.
Am J Hum Genet;
109(9): 1563-1571, 2022 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36055208
2.
Obesity Predisposes Anthracycline-Treated Survivors of Childhood and Adolescent Cancers to Subclinical Cardiac Dysfunction.
Pediatr Cardiol;
2024 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38456890
3.
Risk Factors and Outcomes Associated with Gaps in Care in Children with Congenital Heart Disease.
Pediatr Cardiol;
45(5): 976-985, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38485760
4.
Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.
Circulation;
146(2): 110-124, 2022 07 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35708014
5.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab;
138(3): 107525, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36796138
6.
LMNA Cardiomyopathy: Important Considerations for the Heart Failure Clinician.
J Card Fail;
29(12): 1657-1666, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37659618
7.
Induced Pluripotent Stem Cell-Based Modeling of Single-Ventricle Congenital Heart Diseases.
Curr Cardiol Rep;
25(5): 295-305, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36930454
8.
Inflammation and Immune Response in Arrhythmogenic Cardiomyopathy: State-of-the-Art Review.
Circulation;
144(20): 1646-1655, 2021 11 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34780255
9.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med;
24(5): 1045-1053, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35058154
10.
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
Mol Genet Metab;
135(3): 179-185, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35123877
11.
Efficacy of RyR2 inhibitor EL20 in induced pluripotent stem cell-derived cardiomyocytes from a patient with catecholaminergic polymorphic ventricular tachycardia.
J Cell Mol Med;
2021 Jun 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34110090
12.
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
13.
The genetic underpinnings of anthracycline-induced cardiomyopathy predisposition.
Clin Genet;
100(2): 132-143, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33871046
14.
A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.
J Muscle Res Cell Motil;
42(2): 323-342, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33179204
15.
TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.
Am J Med Genet A;
185(3): 923-929, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33369127
16.
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.
Prog Pediatr Cardiol;
622021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34776723
17.
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes.
J Mol Cell Cardiol;
142: 118-125, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32278834
18.
A Customizable and Peer-Reviewed Curriculum for Cardiovascular Genetics and Genomics.
Circulation;
149(12): 902-904, 2024 03 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38498607
19.
Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children.
J Card Fail;
25(12): 1004-1008, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31626950
20.
Calcium Signaling and Cardiac Arrhythmias.
Circ Res;
120(12): 1969-1993, 2017 Jun 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28596175