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List of works by Matthew T Wheeler

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

scientific article published on 11 January 2018

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

article

Accuracy of Smartphone Camera Applications for Detecting Atrial Fibrillation: A Systematic Review and Meta-analysis

scientific article published on 01 April 2020

Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation

scientific article published on 18 July 2019

Baseline Characteristics of the VANISH Cohort

scientific article published on 09 December 2019

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Cardiomyopathy in animal models of muscular dystrophy

scientific article

Challenges in the clinical application of whole-genome sequencing

scientific article published on 29 April 2010

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

scientific article published on 05 December 2018

Clinical assessment incorporating a personal genome

scientific article

Clinical interpretation and implications of whole-genome sequencing

scientific article published in March 2014

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

scientific article published on 23 October 2020

Cytoskeletal defects in cardiomyopathy

scientific article

DNA sequencing: clinical applications of new DNA sequencing technologies.

scientific article

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

scientific article published on 19 March 2020

Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.

scientific article

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students

scientific article published on 01 February 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy

scientific article published on 17 October 2016

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

scientific article published on January 2017

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

scientific article published on 28 March 2019

Gene coexpression network topology of cardiac development, hypertrophy, and failure

scientific article published on 2 December 2010

Genome Sequencing in Hypertrophic Cardiomyopathy

scientific article published on 01 July 2018

High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs

scientific article published on 29 July 2020

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

scientific article published on 03 June 2019

Interpretation of the electrocardiogram of young athletes

scientific article published on 01 August 2011

Letter by Wheeler et al Regarding Article, "Recognition and Significance of Pathological T-Wave Inversions in Athletes"

scientific article published on 01 October 2015

Limitations of Current AHA Guidelines and Proposal of New Guidelines for the Preparticipation Examination of Athletes

scientific article published on 24 April 2015

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

scientific article published on 28 August 2020

Medical implications of technical accuracy in genome sequencing

scientific article

Outcomes in Patients With Cardiac Amyloidosis Undergoing Heart Transplantation

scientific article published on 04 May 2020

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

scientific article published on 24 June 2019

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

scientific article

Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy

scientific article published on 01 March 2019

Repeats and Survival in Myotonic Dystrophy Type 1

scientific article published on 01 June 2017

Sarcoglycans in vascular smooth and striated muscle

scientific article

Secondary coronary artery vasospasm promotes cardiomyopathy progression.

scientific article

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

scientific article

Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy

scientific article published on March 2004

Sports genetics moving forward: lessons learned from medical research

scientific article

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

article

The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study

scientific article published on 09 October 2019

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study.

scientific article published in December 2017

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

scientific article published on 03 September 2019

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