Search Results - "Wheeler, Matthew T"
-
1
Time trajectories in the transcriptomic response to exercise - a meta-analysis
Published in Nature communications (09-06-2021)“…Exercise training prevents multiple diseases, yet the molecular mechanisms that drive exercise adaptation are incompletely understood. To address this, we…”
Get full text
Journal Article -
2
Cost-Effectiveness of Preparticipation Screening for Prevention of Sudden Cardiac Death in Young Athletes
Published in Annals of internal medicine (02-03-2010)“…Inclusion of 12-lead electrocardiography (ECG) in preparticipation screening of young athletes is controversial because of concerns about cost-effectiveness…”
Get full text
Journal Article -
3
Clinical Interpretation and Implications of Whole-Genome Sequencing
Published in JAMA : the journal of the American Medical Association (12-03-2014)“…IMPORTANCE Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of…”
Get full text
Journal Article -
4
Effect of beta‐blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy
Published in European journal of heart failure (01-02-2023)“…Aims In the EXPLORER‐HCM trial, mavacamten improved exercise capacity and symptoms in patients with obstructive hypertrophic cardiomyopathy (oHCM). Mavacamten…”
Get full text
Journal Article -
5
Challenges in the clinical application of whole-genome sequencing
Published in The Lancet (British edition) (15-05-2010)“…Since whole-genome sequencing will show that every patient has an above-average risk for some disorders, and for having children with some genetic diseases,…”
Get full text
Journal Article -
6
Clinical assessment incorporating a personal genome
Published in The Lancet (British edition) (01-05-2010)“…Summary Background The cost of genomic information has fallen steeply, but the clinical translation of genetic risk estimates remains unclear. We aimed to…”
Get full text
Journal Article -
7
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy
Published in PloS one (28-03-2019)“…Mitochondrial disease is a family of genetic disorders characterized by defects in the generation and regulation of energy. Epilepsy is a common symptom of…”
Get full text
Journal Article -
8
Medical implications of technical accuracy in genome sequencing
Published in Genome medicine (02-03-2016)“…As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for…”
Get full text
Journal Article -
9
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Published in Nature genetics (01-03-2021)“…Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact of genetic variants in derived cell types and developmental…”
Get full text
Journal Article -
10
Mavacamten for Obstructive Hypertrophic Cardiomyopathy: Rationale for Clinically Guided Dose Titration to Optimize Individual Response
Published in Journal of the American Heart Association (03-09-2024)“…Mavacamten is the first and only cardiac myosin inhibitor approved in 5 continents for the treatment of adults with symptomatic New York Heart Association…”
Get full text
Journal Article -
11
Physical Activity and Other Health Behaviors in Adults With Hypertrophic Cardiomyopathy
Published in The American journal of cardiology (01-04-2013)“…The clinical expression of hypertrophic cardiomyopathy (HC) is undoubtedly influenced by modifying genetic and environmental factors. Lifestyle practices such…”
Get full text
Journal Article -
12
Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease
Published in Frontiers in genetics (22-08-2022)“…Purpose: Despite recent attention to increasing diversity in clinical genomics research, researchers still struggle to recruit participants from varied…”
Get full text
Journal Article -
13
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging
Published in PloS one (14-06-2019)“…HCM is the most common inherited cardiomyopathy. Historically, there has been poor correlation between genotype and phenotype. However, CMR has the potential…”
Get full text
Journal Article -
14
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing
Published in Clinical and translational science (01-03-2024)“…Pharmacogenomics has the potential to inform drug dosing and selection, reduce adverse events, and improve medication efficacy; however, provider knowledge of…”
Get full text
Journal Article -
15
Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C
Published in Stem cell research (01-08-2022)“…The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by…”
Get full text
Journal Article -
16
Generation of two human iPSC lines with Exon 3 mutations in BCL2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients
Published in Stem cell research (01-03-2023)“…Dilated cardiomyopathies (DCM) are one of the main causes of heart failure as one ages. BAG3 is a chaperone protein that is heavily implicated in the…”
Get full text
Journal Article -
17
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
Published in PLoS genetics (01-09-2011)“…Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic…”
Get full text
Journal Article -
18
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations
Published in Stem cell research (01-12-2022)“…Dilated cardiomyopathy (DCM) is a common heart disease that can lead to heart failure and sudden cardiac death. Mutations in the TTN gene are the most frequent…”
Get full text
Journal Article -
19
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Published in JCI insight (22-07-2021)“…Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem…”
Get full text
Journal Article -
20
Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations
Published in Stem cell research (01-12-2021)“…•Mutations in TNNI3 gene result in hypertrophic cardiomyopathy (HCM).•We generated three human-induced pluripotent stem cell (iPSC) lines from HCM patients…”
Get full text
Journal Article