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Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Stem cell research, 2023-09, Vol.71, p.103153-103153, Article 103153

2023

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Genetic architecture of left ventricular noncompaction in adults

Human genome variation, 2020-10, Vol.7 (1), p.33-33, Article 33

2020

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The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Genome medicine, 2022-12, Vol.14 (1), p.145-145, Article 145

2022

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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

Npj genomic medicine, 2023-10, Vol.8 (1), p.29-29, Article 29

2023

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Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families

Journal of the American College of Cardiology, 2022-11, Vol.80 (22), p.2057-2068

2022

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Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3

Circulation. Genomic and precision medicine, 2021-04, Vol.14 (2), p.e003202-e003202

2021

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Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Genetics in medicine, 2021-01, Vol.23 (1), p.86-93

2021

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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Circulation. Genomic and precision medicine, 2019-01, Vol.12 (1), p.e002368-e002368

2019

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Splicing Functional Assays Into the Genetic Testing Pipeline

Circulation. Genomic and precision medicine, 2022-12, Vol.15 (6), p.e003949-e003949

2022

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Genetic Basis of Childhood Cardiomyopathy

Circulation. Genomic and precision medicine, 2022-12, Vol.15 (6), p.e003686-e003686

2022

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Genetic architecture of left ventricular noncompaction in adults

Human genome variation, 2020-10, Vol.7

2020

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Identifying Small Molecules via High Resolution Mass Spectrometry: Communicating Confidence

Environmental science & technology, 2014-02, Vol.48 (4), p.2097-2098

2014

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Nontarget Screening with High Resolution Mass Spectrometry in the Environment: Ready to Go?

Environmental science & technology, 2017-10, Vol.51 (20), p.11505-11512

2017

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Strategies to Characterize Polar Organic Contamination in Wastewater: Exploring the Capability of High Resolution Mass Spectrometry

Environmental science & technology, 2014-02, Vol.48 (3), p.1811-1818

2014

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GLUE: a flexible software system for virus sequence data

BMC bioinformatics, 2018-12, Vol.19 (1), p.532-532, Article 532

2018

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Phase 2a randomized clinical trial of dupilumab (anti‐IL‐4Rα) for alopecia areata patients

Allergy (Copenhagen), 2022-03, Vol.77 (3), p.897-906

2022

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Suspect and nontarget screening approaches to identify organic contaminant records in lake sediments

Analytical and bioanalytical chemistry, 2014-11, Vol.406 (28), p.7323-7335

2014

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Non-target screening with high-resolution mass spectrometry: critical review using a collaborative trial on water analysis

Analytical and Bioanalytical Chemistry, 2015-08, Vol.407 (21), p.6237-6255

2015

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Real world SOF/VEL/VOX retreatment outcomes and viral resistance analysis for HCV patients with prior failure to DAA therapy

Journal of viral hepatitis, 2021-09, Vol.28 (9), p.1256-1264

2021

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Rapid and Scalable Characterization of CRISPR Technologies Using an E. coli Cell-Free Transcription-Translation System

Molecular cell, 2018-01, Vol.69 (1), p.146-157.e3

2018

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Automatic recalibration and processing of tandem mass spectra using formula annotation

Journal of mass spectrometry., 2013-01, Vol.48 (1), p.89-99

2013

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Optimizing patient partnership in primary care improvement: A qualitative study

Health care management review, 2021-04, Vol.46 (2), p.123

2021

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A Mixed Methods Study of Change Processes Enabling Effective Transition to Team-Based Care

Medical care research and review, 2021-08, Vol.78 (4), p.326-337

2021

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Factors Influencing Team Behaviors in Surgery: A Qualitative Study to Inform Teamwork Interventions

The Annals of thoracic surgery, 2018-07, Vol.106 (1), p.115-120

2018

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Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

Genetic architecture of left ventricular noncompaction in adults

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death

Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Splicing Functional Assays Into the Genetic Testing Pipeline

Genetic Basis of Childhood Cardiomyopathy

Genetic architecture of left ventricular noncompaction in adults

Identifying Small Molecules via High Resolution Mass Spectrometry: Communicating Confidence

Nontarget Screening with High Resolution Mass Spectrometry in the Environment: Ready to Go?

Strategies to Characterize Polar Organic Contamination in Wastewater: Exploring the Capability of High Resolution Mass Spectrometry

GLUE: a flexible software system for virus sequence data

Phase 2a randomized clinical trial of dupilumab (anti‐IL‐4Rα) for alopecia areata patients

Suspect and nontarget screening approaches to identify organic contaminant records in lake sediments

Non-target screening with high-resolution mass spectrometry: critical review using a collaborative trial on water analysis

Real world SOF/VEL/VOX retreatment outcomes and viral resistance analysis for HCV patients with prior failure to DAA therapy

Rapid and Scalable Characterization of CRISPR Technologies Using an E. coli Cell-Free Transcription-Translation System

Automatic recalibration and processing of tandem mass spectra using formula annotation

Optimizing patient partnership in primary care improvement: A qualitative study

A Mixed Methods Study of Change Processes Enabling Effective Transition to Team-Based Care

Factors Influencing Team Behaviors in Surgery: A Qualitative Study to Inform Teamwork Interventions

Pharmacologic modulation of RNA splicing enhances anti-tumor immunity

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